{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T02:59:00Z","timestamp":1792897140058,"version":"4.5.0"},"reference-count":294,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2014,9,1]],"date-time":"2014-09-01T00:00:00Z","timestamp":1409529600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1016\/j.jns.2014.06.029","type":"journal-article","created":{"date-parts":[[2014,6,21]],"date-time":"2014-06-21T07:35:49Z","timestamp":1403336149000},"page":"5-19","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":136,"title":["Fabry's disease"],"prefix":"10.1016","volume":"344","author":[{"given":"Rima","family":"El-Abassi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya","family":"Singhal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John D.","family":"England","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0005","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1006\/bbrc.1993.2659","article-title":"Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease","volume":"197","author":"Ishii","year":"1993","journal-title":"Biochem Biophys Res Commun"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0010","first-page":"784","article-title":"Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease","volume":"47","author":"Sakuraba","year":"1990","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb0015","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1097\/00004691-200212000-00011","article-title":"Small fiber dysfunction predominates in Fabry neuropathy","volume":"19","author":"Dutsch","year":"2002","journal-title":"J Clin Neurophysiol"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0020","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1172\/JCI114027","article-title":"Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene","volume":"83","author":"Bernstein","year":"1989","journal-title":"J Clin Invest"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0025","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/humu.9520","article-title":"Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone","volume":"29","author":"Shimotori","year":"2008","journal-title":"Hum Mutat"},{"issue":"16","key":"10.1016\/j.jns.2014.06.029_bb0030","doi-asserted-by":"crossref","first-page":"9319","DOI":"10.1016\/S0021-9258(19)38851-9","article-title":"Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene","volume":"265","author":"Kornreich","year":"1990","journal-title":"J Biol Chem"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0035","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1042\/BJ20070479","article-title":"Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin","volume":"406","author":"Ishii","year":"2007","journal-title":"Biochem J"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0040","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1080\/08035250500275022","article-title":"Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey","volume":"95","author":"Ramaswami","year":"2006","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jns.2014.06.029_bb0045","series-title":"Diagnosing lysosomal storage disorders: Fabry disease. Current protocols in human genetics\/editorial board, Jonathan L Haines [et al]","author":"Bodamer","year":"2013"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0050","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ymgme.2004.01.011","article-title":"Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts","volume":"82","author":"Lucke","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jns.2014.06.029_bb0055","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/S0065-2423(09)49003-6","article-title":"Biochemical basis of Fabry disease with emphasis on mitochondrial function and protein trafficking","volume":"49","author":"Das","year":"2009","journal-title":"Adv Clin Chem"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0060","doi-asserted-by":"crossref","first-page":"H1133","DOI":"10.1152\/ajpheart.00929.2008","article-title":"Differential involvement of COX1 and COX2 in the vasculopathy associated with the alpha-galactosidase A-knockout mouse","volume":"296","author":"Park","year":"2009","journal-title":"Am J Physiol Heart Circ Physiol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0065","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1093\/cvr\/cvq333","article-title":"Globotriaosylceramide leads to K(Ca)3.1 channel dysfunction: a new insight into endothelial dysfunction in Fabry disease","volume":"89","author":"Park","year":"2011","journal-title":"Cardiovasc Res"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0070","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2008.06.016","article-title":"Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells","volume":"95","author":"Shen","year":"2008","journal-title":"Mol Genet Metab"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0075","doi-asserted-by":"crossref","first-page":"589","DOI":"10.4161\/auto.6.5.11943","article-title":"Autophagosome maturation is impaired in Fabry disease","volume":"6","author":"Chevrier","year":"2010","journal-title":"Autophagy"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0080","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1080\/10976640600605002","article-title":"The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease","volume":"8","author":"Moon","year":"2006","journal-title":"J Cardiovasc Magn Reson"},{"key":"10.1016\/j.jns.2014.06.029_bb0085","doi-asserted-by":"crossref","first-page":"S29","DOI":"10.1038\/ki.2008.522","article-title":"Renal manifestations in Fabry disease and therapeutic options","volume":"111","author":"Torra","year":"2008","journal-title":"Kidney Int Suppl"},{"issue":"Suppl. A","key":"10.1016\/j.jns.2014.06.029_bb0090","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1016\/S0149-2918(07)80115-9","article-title":"Fabry disease model: a rational approach to the management of Fabry disease","volume":"29","author":"Wanner","year":"2007","journal-title":"Clin Ther"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0095","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"issue":"1\u20132","key":"10.1016\/j.jns.2014.06.029_bb0100","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum Genet"},{"issue":"26","key":"10.1016\/j.jns.2014.06.029_bb0105","first-page":"440","article-title":"Fabry disease\u2014often seen, rarely diagnosed","volume":"106","author":"Hoffmann","year":"2009","journal-title":"Dtsch Arzteblatt Int"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0110","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset Fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"10","key":"10.1016\/j.jns.2014.06.029_bb0115","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1002\/humu.21074","article-title":"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)","volume":"30","author":"Hwu","year":"2009","journal-title":"Hum Mutat"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0120","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","article-title":"Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry","volume":"93","author":"Wilcox","year":"2008","journal-title":"Mol Genet Metab"},{"issue":"11","key":"10.1016\/j.jns.2014.06.029_bb0125","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.38.11.769","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females","volume":"38","author":"MacDermot","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.jns.2014.06.029_bb0130","doi-asserted-by":"crossref","unstructured":"Germain DP. [Fabry disease. Clinical and genetic aspects. Therapeutic perspectives]. La Revue de medecine interne\/fondee par la Societe nationale francaise de medecine interne. 2000;21(12):1086-103. Epub 2001\/02\/24. La maladie de Fabry. Aspects cliniques et genetiques. Perspectives therapeutiques.","DOI":"10.1016\/S0248-8663(00)00269-1"},{"key":"10.1016\/j.jns.2014.06.029_bb0135","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1159\/000060196","article-title":"Clinical manifestation in female Fabry disease patients","volume":"136","author":"Whybra","year":"2001","journal-title":"Contrib Nephrol"},{"key":"10.1016\/j.jns.2014.06.029_bb0140","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/190372a0","article-title":"Gene action in the X-chromosome of the mouse (Mus musculus L.)","volume":"190","author":"Lyon","year":"1961","journal-title":"Nature"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0145","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1212\/01.wnl.0000173030.70057.eb","article-title":"White matter lesion severity in male and female patients with Fabry disease","volume":"65","author":"Fellgiebel","year":"2005","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0150","first-page":"36","article-title":"Cerebrovascular manifestations in a female carrier of Fabry's disease","volume":"92","author":"Grewal","year":"1992","journal-title":"Acta Neurol Belg"},{"key":"10.1016\/j.jns.2014.06.029_bb0155","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1159\/000060195","article-title":"Neurological manifestation of Fabry disease in females","volume":"136","author":"Wendrich","year":"2001","journal-title":"Contrib Nephrol"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0160","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1017\/S0317167100002936","article-title":"Fabry's disease presenting as stroke in a young female","volume":"31","author":"Giacomini","year":"2004","journal-title":"Can J Neurol Sci"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb0165","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1067\/mhj.2000.105105","article-title":"New insights in cardiac structural changes in patients with Fabry's disease","volume":"139","author":"Linhart","year":"2000","journal-title":"Am Heart J"},{"issue":"9","key":"10.1016\/j.jns.2014.06.029_bb0170","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1016\/S0735-1097(02)02380-X","article-title":"Cardiac manifestations of Anderson-Fabry disease in heterozygous females","volume":"40","author":"Kampmann","year":"2002","journal-title":"J Am Coll Cardiol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0175","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1093\/ndt\/gfm848","article-title":"Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy","volume":"23","author":"Ortiz","year":"2008","journal-title":"Nephrol Dial Transplant"},{"issue":"12","key":"10.1016\/j.jns.2014.06.029_bb0180","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.2215\/CJN.04340510","article-title":"Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry registry","volume":"5","author":"Wanner","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0185","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","article-title":"Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry","volume":"30","author":"Eng","year":"2007","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0190","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/0002-9378(90)90410-9","article-title":"Demonstration of Fabry's disease deposits in placenta","volume":"162","author":"Popli","year":"1990","journal-title":"Am J Obstet Gynecol"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0195","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1007\/s10545-006-0196-0","article-title":"Manifestations of Fabry disease in placental tissue","volume":"29","author":"Vedder","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jns.2014.06.029_bb0200","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/j.1651-2227.2007.00198.x","article-title":"Structure\u2013function relationships in alpha-galactosidase A","volume":"96","author":"Garman","year":"2007","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jns.2014.06.029_bb0210","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmedgenet-2013-101857","article-title":"A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance","volume":"51","author":"Van der Tol","year":"2014","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0215","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1203\/PDR.0b013e318183f132","article-title":"Characterization of Fabry disease in 352 pediatric patients in the Fabry registry","volume":"64","author":"Hopkin","year":"2008","journal-title":"Pediatr Res"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0220","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/j.1365-2362.2004.01309.x","article-title":"Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey","volume":"34","author":"Mehta","year":"2004","journal-title":"Eur J Clin Investig"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb0225","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1056\/NEJM199102073240607","article-title":"An atypical variant of Fabry's disease with manifestations confined to the myocardium","volume":"324","author":"von Scheidt","year":"1991","journal-title":"N Engl J Med"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0230","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jns.2014.06.029_bb0235","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jns.2014.06.029_bb0240","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0245","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1681\/ASN.2006080816","article-title":"Sustained, long-term renal stabilization after 54months of agalsidase beta therapy in patients with Fabry disease","volume":"18","author":"Germain","year":"2007","journal-title":"J Am Soc Nephrol"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb0250","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1046\/j.1523-1755.2002.00675.x","article-title":"Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy","volume":"62","author":"Thurberg","year":"2002","journal-title":"Kidney Int"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0255","first-page":"916","article-title":"T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease","volume":"24","author":"Takanashi","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0260","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/BF01606034","article-title":"Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy","volume":"417","author":"Elleder","year":"1990","journal-title":"Virchows Arch"},{"issue":"12","key":"10.1016\/j.jns.2014.06.029_bb0265","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","article-title":"Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy","volume":"105","author":"Sachdev","year":"2002","journal-title":"Circulation"},{"issue":"25","key":"10.1016\/j.jns.2014.06.029_bb0270","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1016\/j.jacc.2007.06.062","article-title":"Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy","volume":"50","author":"Monserrat","year":"2007","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.jns.2014.06.029_bb0275","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","article-title":"Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy","volume":"105","author":"Sachdev","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.jns.2014.06.029_bb0280","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1016\/j.jacc.2007.06.062","article-title":"Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy","volume":"50","author":"Monserrat","year":"2007","journal-title":"J Am Coll Cardiol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0285","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1136\/hrt.2010.200188","article-title":"Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study","volume":"97","author":"Hagege","year":"2011","journal-title":"Heart"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0290","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int"},{"key":"10.1016\/j.jns.2014.06.029_bb0295","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/S0140-6736(05)67635-0","article-title":"Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study","volume":"366","author":"Rolfs","year":"2005","journal-title":"Lancet"},{"key":"10.1016\/j.jns.2014.06.029_bb0300","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.clineuro.2007.03.008","article-title":"Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke","volume":"109","author":"Brouns","year":"2007","journal-title":"Clin Neurol Neurosurg"},{"key":"10.1016\/j.jns.2014.06.029_bb0305","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1161\/STROKEAHA.110.579409","article-title":"Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease","volume":"41","author":"Brouns","year":"2010","journal-title":"Stroke"},{"key":"10.1016\/j.jns.2014.06.029_bb0310","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1161\/STROKEAHA.109.558320","article-title":"Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke","volume":"41","author":"Wozniak","year":"2010","journal-title":"Stroke"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0320","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1159\/000047393","article-title":"Unexpected diagnosis of fabry disease in an 80-year-old man with syncope","volume":"96","author":"Lien","year":"2001","journal-title":"Cardiology"},{"key":"10.1016\/j.jns.2014.06.029_bb0325","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ymgme.2012.03.010","article-title":"Small fiber neuropathy in Fabry disease","volume":"106","author":"Biegstraaten","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jns.2014.06.029_bb0330","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/jhg.2010.58","article-title":"Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns","volume":"55","author":"Lee","year":"2010","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jns.2014.06.029_bb0335","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1080\/08035320600618809","article-title":"Disease manifestations and X inactivation in heterozygous females with Fabry disease","volume":"95","author":"Maier","year":"2006","journal-title":"Acta Paediatr Suppl"},{"key":"10.1016\/j.jns.2014.06.029_bb0340","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.38.11.769","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females","volume":"38","author":"MacDermot","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.jns.2014.06.029_bb0345","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s10545-006-0484-8","article-title":"The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels","volume":"30","author":"Vedder","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jns.2014.06.029_bb0350","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1159\/000060194","article-title":"A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant","volume":"136","author":"Germain","year":"2001","journal-title":"Contrib Nephrol"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0355","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.pain.2006.01.041","article-title":"Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): standardized protocol and reference values","volume":"123","author":"Rolke","year":"2006","journal-title":"Pain"},{"issue":"Suppl. 2","key":"10.1016\/j.jns.2014.06.029_bb0360","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1023\/A:1012499119196","article-title":"Natural history of Fabry disease in males: preliminary observations","volume":"24","author":"Schiffmann","year":"2001","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0365","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1001\/archneur.1970.00480190085014","article-title":"Peripheral nerve involvement in Fabry's disease","volume":"22","author":"Kocen","year":"1970","journal-title":"Arch Neurol"},{"issue":"2\u20133","key":"10.1016\/j.jns.2014.06.029_bb0370","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/S0304-3959(99)00236-5","article-title":"Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients","volume":"84","author":"Hilz","year":"2000","journal-title":"Pain"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb0375","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1016\/j.clinph.2008.02.004","article-title":"Neuropathic symptoms and findings in women with Fabry disease","volume":"119","author":"Laaksonen","year":"2008","journal-title":"Clin Neurophysiol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0380","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/mus.10236","article-title":"Physiological characterization of neuropathy in Fabry's disease","volume":"26","author":"Luciano","year":"2002","journal-title":"Muscle Nerve"},{"issue":"1\u20132","key":"10.1016\/j.jns.2014.06.029_bb0385","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.pain.2009.06.032","article-title":"Functional and structural nerve fiber findings in heterozygote patients with Fabry disease","volume":"145","author":"Torvin Moller","year":"2009","journal-title":"Pain"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb0390","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1111\/j.1526-4637.2008.00470.x","article-title":"Detection of a characteristic painful neuropathy in Fabry disease: a pilot study","volume":"9","author":"Maag","year":"2008","journal-title":"Pain Med"},{"issue":"277","key":"10.1016\/j.jns.2014.06.029_bb0395","first-page":"491","article-title":"The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)\u2014investigation of symptomatic and presymptomatic patients","volume":"75","author":"Morgan","year":"1990","journal-title":"Q J Med"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb0400","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/j.1445-5994.2007.01366.x","article-title":"Neurology of Fabry disease","volume":"37","author":"Low","year":"2007","journal-title":"Intern Med J"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0405","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1001\/archneur.1974.00490380068009","article-title":"Loss of small peripheral sensory neurons in Fabry disease. Histologic and morphometric evaluation of cutaneous nerves, spinal ganglia, and posterior columns","volume":"31","author":"Onishi","year":"1974","journal-title":"Arch Neurol"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb0410","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1007\/s004150050125","article-title":"Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease","volume":"244","author":"Toyooka","year":"1997","journal-title":"J Neurol"},{"key":"10.1016\/j.jns.2014.06.029_bb0415","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1002\/mus.20174","article-title":"Functional assessment of A delta and C fibers in patients with Fabry's disease","volume":"30","author":"Valeriani","year":"2004","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jns.2014.06.029_bb0420","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1471-2377-13-47","article-title":"Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case\u2013control study","volume":"13","author":"\u00dc\u00e7eyler","year":"2013","journal-title":"BMC Neurol"},{"key":"10.1016\/j.jns.2014.06.029_bb0430","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1093\/brain\/awh180","article-title":"Skin denervation in type 2 diabetes: correlations with diabetic duration and functional impairments","volume":"127","author":"Shun","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.jns.2014.06.029_bb0435","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1111\/j.1464-5491.2008.02446.x","article-title":"Small-fibre involvement in diabetic patients with neuropathic foot pain","volume":"25","author":"Vlckova-Moravcova","year":"2008","journal-title":"Diabet Med"},{"key":"10.1016\/j.jns.2014.06.029_bb0440","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/mus.20689","article-title":"Quantified sensory abnormalities in early genetically verified transthyretin amyloid polyneuropathy","volume":"35","author":"Heldestad","year":"2007","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jns.2014.06.029_bb0445","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/ana.410230513","article-title":"Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation","volume":"23","author":"Kaye","year":"1988","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2014.06.029_bb0450","doi-asserted-by":"crossref","first-page":"S48","DOI":"10.1111\/j.1651-2227.2002.tb03110.x","article-title":"Pathophysiology and assessment of neuropathic pain in Fabry disease","volume":"439","author":"Schiffmann","year":"2002","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jns.2014.06.029_bb0455","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1529-8027.2012.00438.x","article-title":"Upregulation of inward rectifying currents and Fabry disease neuropathy","volume":"17","author":"Geevasinga","year":"2012","journal-title":"J Peripher Nerv Syst"},{"key":"10.1016\/j.jns.2014.06.029_bb0460","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1111\/j.1529-8027.2011.00365.x","article-title":"Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy","volume":"16","author":"\u00dc\u00e7eyler","year":"2011","journal-title":"J Peripher Nerv Syst"},{"key":"10.1016\/j.jns.2014.06.029_bb0465","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jns.2014.06.029_bb0470","doi-asserted-by":"crossref","first-page":"11178","DOI":"10.1074\/jbc.M109.092973","article-title":"Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids","volume":"285","author":"Penno","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jns.2014.06.029_bb0475","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/S1388-2457(99)00295-3","article-title":"A new method to increase nociception specificity of the human blink reflex","volume":"111","author":"Kaube","year":"2000","journal-title":"Clin Neurophysiol"},{"key":"10.1016\/j.jns.2014.06.029_bb0480","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1471-2377-13-47","article-title":"Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case\u2013control study","volume":"13","author":"\u00dc\u00e7eyler","year":"2013","journal-title":"BMC Neurol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0485","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/mus.10236","article-title":"Physiological characterization of neuropathy in Fabry's disease","volume":"26","author":"Luciano","year":"2002","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0490","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/mus.21606","article-title":"Small fiber neuropathy in female patients with fabry disease","volume":"41","author":"Liguori","year":"2010","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb0495","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1212\/WNL.52.6.1249","article-title":"Quantitative analysis of epidermal innervation in Fabry disease","volume":"52","author":"Scott","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2014.06.029_bb0500","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1159\/000115700","article-title":"Pathological study of the sural nerve in Fabry's disease","volume":"23","author":"Gemignani","year":"1984","journal-title":"Eur Neurol"},{"key":"10.1016\/j.jns.2014.06.029_bb0505","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/S1567-424X(09)70338-1","article-title":"Unmyelinated nerves, challenges, and opportunities: skin biopsy and beyond","volume":"57","author":"Kennedy","year":"2004","journal-title":"Suppl Clin Neurophysiol"},{"key":"10.1016\/j.jns.2014.06.029_bb0510","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1111\/j.1529-8027.2011.00365.x","article-title":"Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy","volume":"16","author":"\u00dc\u00e7eyler","year":"2011","journal-title":"J Peripher Nerv Syst"},{"key":"10.1016\/j.jns.2014.06.029_bb0520","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1212\/WNL.52.6.1249","article-title":"Quantitative analysis of epidermal innervation in Fabry disease","volume":"52","author":"Scott","year":"1999","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb0525","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1097\/AJP.0b013e318074c986","article-title":"Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy\u2014a retrospective analysis from the Fabry Outcome Survey","volume":"23","author":"Hoffmann","year":"2007","journal-title":"Clin J Pain"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0530","doi-asserted-by":"crossref","first-page":"190","DOI":"10.3928\/00904481-20090401-01","article-title":"A 14-year-old boy with pain in hands and feet","volume":"38","author":"Charrow","year":"2009","journal-title":"Pediatr Ann"},{"issue":"439","key":"10.1016\/j.jns.2014.06.029_bb0535","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1651-2227.2002.tb03110.x","article-title":"Pathophysiology and assessment of neuropathic pain in Fabry disease","volume":"91","author":"Schiffmann","year":"2002","journal-title":"Acta Paediatr Suppl"},{"key":"10.1016\/j.jns.2014.06.029_bb0540","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1097\/01.ASN.0000015239.57436.18","article-title":"Anderson-Fabry disease: extrarenal, neurologic manifestations","volume":"13","author":"Kolodny","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.jns.2014.06.029_bb0545","first-page":"366","article-title":"Angiokeratoma corporis diffusum universale (hereditary dystopic lipidosis)","volume":"74","author":"Rahman","year":"1971","journal-title":"Trans Assoc Am Phys"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0550","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0022-510X(95)00355-6","article-title":"Autonomic neuropathy, I. Clinical features, investigation, pathophysiology, and treatment","volume":"137","author":"McDougall","year":"1996","journal-title":"J Neurol Sci"},{"issue":"Pt 3","key":"10.1016\/j.jns.2014.06.029_bb0555","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/brain\/110.3.563","article-title":"Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies","volume":"110","author":"Donaghy","year":"1987","journal-title":"Brain"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0560","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1212\/WNL.32.5.498","article-title":"Fabry disease: impaired autonomic function","volume":"32","author":"Cable","year":"1982","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0565","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/BF00685960","article-title":"Fabry's disease on the mechanism of the peripheral nerve involvement","volume":"33","author":"Fukuhara","year":"1975","journal-title":"Acta Neuropathol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0570","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF02291231","article-title":"Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response","volume":"6","author":"Yamamoto","year":"1996","journal-title":"Clin Auton Res"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0575","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S0923-1811(98)00032-2","article-title":"The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis","volume":"18","author":"Lao","year":"1998","journal-title":"J Dermatol Sci"},{"issue":"21","key":"10.1016\/j.jns.2014.06.029_bb0580","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in Fabry disease: a randomized controlled trial","volume":"285","author":"Schiffmann","year":"2001","journal-title":"JAMA"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb0585","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1161\/01.STR.32.7.1559","article-title":"Enhanced endothelium-dependent vasodilation in Fabry disease","volume":"32","author":"Altarescu","year":"2001","journal-title":"Stroke"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0590","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/j.1651-2227.2008.00700.x","article-title":"Cardiac manifestations of Anderson-Fabry disease in children and adolescents","volume":"97","author":"Kampmann","year":"2008","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jns.2014.06.029_bb0595","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/1471-2377-10-38","article-title":"Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests","volume":"10","author":"Biegstraaten","year":"2010","journal-title":"BMC Neurol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0605","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1159\/000047393","article-title":"Unexpected diagnosis of fabry disease in an 80-year-old man with syncope","volume":"96","author":"Lien","year":"2001","journal-title":"Cardiology"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0610","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1001\/archneur.1988.00520280122030","article-title":"Severe orthostatic hypotension in a female carrier of Fabry's disease","volume":"45","author":"Mutoh","year":"1988","journal-title":"Arch Neurol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0615","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ymgme.2012.03.010","article-title":"Small fiber neuropathy in Fabry disease","volume":"106","author":"Biegstraaten","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0620","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1159\/000106640","article-title":"The vascular dementia of Fabry's disease","volume":"8","author":"Mendez","year":"1997","journal-title":"Dement Geriatr Cogn Disord"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0625","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1111\/j.1440-1789.2008.00883.x","article-title":"An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia","volume":"28","author":"Okeda","year":"2008","journal-title":"Neuropathology"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0630","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1161\/STROKEAHA.108.526293","article-title":"Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry registry","volume":"40","author":"Sims","year":"2009","journal-title":"Stroke"},{"key":"10.1016\/j.jns.2014.06.029_bb0635","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/j.jacc.2010.11.018","article-title":"Cardiovascular events in patients with Fabry disease: natural history data from the Fabry registry","volume":"57","author":"Patel","year":"2011","journal-title":"J Am Coll Cardiol"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0640","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1161\/STROKEAHA.109.570499","article-title":"Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study\u2014screening genetic conditions in Portuguese young stroke patients","volume":"41","author":"Baptista","year":"2010","journal-title":"Stroke"},{"issue":"9499","key":"10.1016\/j.jns.2014.06.029_bb0645","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/S0140-6736(05)67635-0","article-title":"Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study","volume":"366","author":"Rolfs","year":"2005","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0650","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1161\/STROKEAHA.109.558320","article-title":"Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke","volume":"41","author":"Wozniak","year":"2010","journal-title":"Stroke"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0655","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1161\/STROKEAHA.110.579409","article-title":"Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease","volume":"41","author":"Brouns","year":"2010","journal-title":"Stroke"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0660","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1161\/STROKEAHA.112.663708","article-title":"Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study","volume":"44","author":"Rolfs","year":"2013","journal-title":"Stroke"},{"issue":"22","key":"10.1016\/j.jns.2014.06.029_bb0665","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1212\/01.wnl.0000436611.28210.ec","article-title":"MRI in acute cerebral ischemia of the young: the Stroke in Young Fabry Patients (sifap1) study","volume":"26","author":"Fazekas","year":"2013","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0670","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ana.410400105","article-title":"Cerebrovascular complications of Fabry's disease","volume":"40","author":"Mitsias","year":"1996","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0675","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1001\/archneurol.2009.309","article-title":"Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes","volume":"67","author":"Testai","year":"2010","journal-title":"Arch Neurol"},{"issue":"9","key":"10.1016\/j.jns.2014.06.029_bb0680","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/S1474-4422(06)70548-8","article-title":"CNS manifestations of Fabry's disease","volume":"5","author":"Fellgiebel","year":"2006","journal-title":"Lancet Neurol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0685","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ymgme.2009.10.004","article-title":"Vasculopathy in patients with Fabry disease: current controversies and research directions","volume":"99","author":"Rombach","year":"2010","journal-title":"Mol Genet Metab"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb0690","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0695","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1097\/01.ASN.0000043901.45141.D4","article-title":"Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis","volume":"14","author":"Eitzman","year":"2003","journal-title":"J Am Soc Nephrol"},{"issue":"9","key":"10.1016\/j.jns.2014.06.029_bb0700","doi-asserted-by":"crossref","first-page":"2636","DOI":"10.1681\/ASN.2005040383","article-title":"An in vitro model of Fabry disease","volume":"16","author":"Shu","year":"2005","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0705","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1161\/01.STR.0000206442.86238.39","article-title":"Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation","volume":"37","author":"Shen","year":"2006","journal-title":"Stroke"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0710","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1159\/000322153","article-title":"Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5024 young stroke patients aged 18\u201355years","volume":"31","author":"Rolfs","year":"2011","journal-title":"Cerebrovasc Dis"},{"issue":"451","key":"10.1016\/j.jns.2014.06.029_bb0715","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1080\/08035320600618932","article-title":"Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model","volume":"95","author":"Moore","year":"2006","journal-title":"Acta Paediatr Suppl"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0720","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1161\/01.CIR.0000154550.15963.80","article-title":"Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency","volume":"111","author":"Bodary","year":"2005","journal-title":"Circulation"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0725","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1212\/01.wnl.0000338566.54190.8a","article-title":"Diagnostic utility of different MRI and MR angiography measures in Fabry disease","volume":"72","author":"Fellgiebel","year":"2009","journal-title":"Neurology"},{"issue":"1\u20132","key":"10.1016\/j.jns.2014.06.029_bb0730","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.jns.2007.01.053","article-title":"The cerebral vasculopathy of Fabry disease","volume":"257","author":"Moore","year":"2007","journal-title":"J Neurol Sci"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0735","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/1531-8249(200002)47:2<229::AID-ANA13>3.0.CO;2-T","article-title":"Profile of endothelial and leukocyte activation in Fabry patients","volume":"47","author":"DeGraba","year":"2000","journal-title":"Ann Neurol"},{"issue":"13","key":"10.1016\/j.jns.2014.06.029_bb0740","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1161\/hc3801.096352","article-title":"Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy","volume":"104","author":"Moore","year":"2001","journal-title":"Circulation"},{"issue":"439","key":"10.1016\/j.jns.2014.06.029_bb0745","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1651-2227.2002.tb03112.x","article-title":"Endothelial markers and homocysteine in patients with classic Fabry disease","volume":"91","author":"Demuth","year":"2002","journal-title":"Acta Paediatr Suppl"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0750","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1007\/s00415-004-0364-9","article-title":"Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease","volume":"251","author":"Hilz","year":"2004","journal-title":"J Neurol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0755","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1161\/hs0202.102601","article-title":"Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement","volume":"33","author":"Moore","year":"2002","journal-title":"Stroke"},{"issue":"Suppl. 2","key":"10.1016\/j.jns.2014.06.029_bb0760","doi-asserted-by":"crossref","first-page":"S150","DOI":"10.1097\/01.ASN.0000015239.57436.18","article-title":"Anderson-Fabry disease: extrarenal, neurologic manifestations","volume":"13","author":"Kolodny","year":"2002","journal-title":"J Am Soc Nephrol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0765","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1023\/B:BOLI.0000028794.04349.91","article-title":"CNS involvement in Fabry disease: clinical and imaging studies before and after 12months of enzyme replacement therapy","volume":"27","author":"Jardim","year":"2004","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0770","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1007\/s00415-008-0786-x","article-title":"The pulvinar sign: frequency and clinical correlations in Fabry disease","volume":"255","author":"Burlina","year":"2008","journal-title":"J Neurol"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb0775","first-page":"1096","article-title":"Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease","volume":"24","author":"Moore","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0780","first-page":"916","article-title":"T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease","volume":"24","author":"Takanashi","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"issue":"11","key":"10.1016\/j.jns.2014.06.029_bb0785","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1136\/jnnp.2008.143693","article-title":"Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study","volume":"79","author":"Buechner","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0790","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.ejmg.2006.01.007","article-title":"Chiari type I malformation in four unrelated patients affected with Fabry disease","volume":"49","author":"Germain","year":"2006","journal-title":"Eur J Med Genet"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb0795","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1212\/WNL.52.8.1663","article-title":"Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study","volume":"52","author":"Tedeschi","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2014.06.029_bb0800","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1471-2350-3-10","article-title":"Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients","volume":"3","author":"Germain","year":"2002","journal-title":"BMC Med Genet"},{"issue":"10","key":"10.1016\/j.jns.2014.06.029_bb0805","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1007\/s00415-007-0575-y","article-title":"Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy","volume":"254","author":"Palla","year":"2007","journal-title":"J Neurol"},{"issue":"Pt 1","key":"10.1016\/j.jns.2014.06.029_bb0810","first-page":"143","article-title":"Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease","volume":"130","author":"Ries","year":"2007","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0815","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/ki.1978.32","article-title":"Early renal changes in hemizygous and heterozygous patients with Fabry's disease","volume":"13","author":"Gubler","year":"1978","journal-title":"Kidney Int"},{"issue":"Suppl. 2","key":"10.1016\/j.jns.2014.06.029_bb0820","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1023\/A:1012423924648","article-title":"Renal pathological changes in Fabry disease","volume":"24","author":"Sessa","year":"2001","journal-title":"J Inherit Metab Dis"},{"issue":"Suppl. 2","key":"10.1016\/j.jns.2014.06.029_bb0825","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1023\/A:1012475908718","article-title":"Renal disease in Fabry patients","volume":"24","author":"Grunfeld","year":"2001","journal-title":"J Inherit Metab Dis"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb0830","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1093\/ndt\/gfp528","article-title":"Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)","volume":"25","author":"Fogo","year":"2010","journal-title":"Nephrol Dial Transplant"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0835","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1136\/jmg.20.4.309","article-title":"Involvement of dorsal root ganglia in Fabry's disease","volume":"20","author":"Gadoth","year":"1983","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0840","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/0022-510X(89)90113-5","article-title":"Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry's disease","volume":"90","author":"Hozumi","year":"1989","journal-title":"J Neurol Sci"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0845","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1159\/000115700","article-title":"Pathological study of the sural nerve in Fabry's disease","volume":"23","author":"Gemignani","year":"1984","journal-title":"Eur Neurol"},{"issue":"9","key":"10.1016\/j.jns.2014.06.029_bb0850","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1136\/jmg.38.9.629","article-title":"Non-invasive evaluation of arterial involvement in patients affected with Fabry disease","volume":"38","author":"Boutouyrie","year":"2001","journal-title":"J Med Genet"},{"issue":"439","key":"10.1016\/j.jns.2014.06.029_bb0855","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1651-2227.2002.tb03113.x","article-title":"Arterial remodelling in Fabry disease","volume":"91","author":"Boutouyrie","year":"2002","journal-title":"Acta Paediatr Suppl"},{"key":"10.1016\/j.jns.2014.06.029_bb0860","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1089\/153968503768330229","article-title":"Severe lymphatic microangiopathy in Fabry disease","volume":"1","author":"Amann-Vesti","year":"2003","journal-title":"Lymphat Res Biol"},{"issue":"451","key":"10.1016\/j.jns.2014.06.029_bb0865","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1080\/08035320600618924","article-title":"Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease","volume":"95","author":"Barbey","year":"2006","journal-title":"Acta Paediatr Suppl"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb0870","doi-asserted-by":"crossref","first-page":"2102","DOI":"10.1093\/ndt\/gfp031","article-title":"Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy","volume":"24","author":"Schiffmann","year":"2009","journal-title":"Nephrol Dial Transplant"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0875","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1034\/j.1399-0004.2003.630107.x","article-title":"Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients","volume":"63","author":"Senechal","year":"2003","journal-title":"Clin Genet"},{"issue":"10","key":"10.1016\/j.jns.2014.06.029_bb0880","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1093\/eurheartj\/ehm153","article-title":"Cardiac manifestations of Anderson-Fabry disease: results from the International Fabry Outcome Survey","volume":"28","author":"Linhart","year":"2007","journal-title":"Eur Heart J"},{"issue":"12","key":"10.1016\/j.jns.2014.06.029_bb0885","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","article-title":"Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy","volume":"105","author":"Sachdev","year":"2002","journal-title":"Circulation"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0890","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1136\/hrt.2004.054015","article-title":"Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A","volume":"92","author":"Elliott","year":"2006","journal-title":"Heart"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0895","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1007\/s10545-005-0563-2","article-title":"Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease","volume":"28","author":"Kalliokoski","year":"2005","journal-title":"J Inherit Metab Dis"},{"issue":"16","key":"10.1016\/j.jns.2014.06.029_bb0900","doi-asserted-by":"crossref","first-page":"e720","DOI":"10.1161\/CIRCULATIONAHA.105.584292","article-title":"Images in cardiovascular medicine. Transition from left ventricular hypertrophy to massive fibrosis in the cardiac variant of Fabry disease","volume":"113","author":"Hasegawa","year":"2006","journal-title":"Circulation"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0905","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jjcc.2007.12.001","article-title":"Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study","volume":"51","author":"Takenaka","year":"2008","journal-title":"J Cardiol"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb0910","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1076\/opge.24.3.129.15609","article-title":"Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients","volume":"24","author":"Orssaud","year":"2003","journal-title":"Ophthalmic Genet"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0915","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1136\/bjo.2006.100602","article-title":"Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey","volume":"91","author":"Sodi","year":"2007","journal-title":"Br J Ophthalmol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0920","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/j.1442-9071.2005.00990.x","article-title":"Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre","volume":"33","author":"Nguyen","year":"2005","journal-title":"Clin Exp Ophthalmol"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb0925","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1001\/archopht.1979.01020010327008","article-title":"The ocular manifestations in Fabry's disease","volume":"97","author":"Sher","year":"1979","journal-title":"Arch Ophthalmol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0930","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1159\/000087675","article-title":"Cardiopulmonary exercise testing in Fabry disease","volume":"72","author":"Bierer","year":"2005","journal-title":"Respiration"},{"issue":"11 Suppl.","key":"10.1016\/j.jns.2014.06.029_bb0935","first-page":"37","article-title":"Respiratory involvement in patients with Fabry disease","volume":"21","author":"Magage","year":"2005","journal-title":"Med Sci"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0940","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1007\/s10545-007-0616-9","article-title":"Natural history of the respiratory involvement in Anderson-Fabry disease","volume":"30","author":"Magage","year":"2007","journal-title":"J Inherit Metab Dis"},{"issue":"11 Suppl.","key":"10.1016\/j.jns.2014.06.029_bb0945","first-page":"43","article-title":"Bone involvement in Fabry disease","volume":"21","author":"Germain","year":"2005","journal-title":"Med Sci"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb0950","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1111\/j.1399-0004.2005.00457.x","article-title":"Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease","volume":"68","author":"Germain","year":"2005","journal-title":"Clin Genet"},{"issue":"12","key":"10.1016\/j.jns.2014.06.029_bb0955","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1097\/GIM.0b013e31815cb197","article-title":"Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density","volume":"9","author":"Mersebach","year":"2007","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb0960","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/0009-8981(81)90384-3","article-title":"Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease","volume":"112","author":"Mayes","year":"1981","journal-title":"Clin Chim Acta"},{"issue":"11","key":"10.1016\/j.jns.2014.06.029_bb0965","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1515\/CCLM.2005.219","article-title":"Deficient alpha-galactosidase A activity in plasma but no Fabry disease\u2014a pitfall in diagnosis","volume":"43","author":"Hoffmann","year":"2005","journal-title":"Clin Chem Lab Med"},{"issue":"1-2","key":"10.1016\/j.jns.2014.06.029_bb0970","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0009-8981(01)00478-8","article-title":"Fabry disease: enzymatic diagnosis in dried blood spots on filter paper","volume":"308","author":"Chamoles","year":"2001","journal-title":"Clin Chim Acta"},{"issue":"11 Suppl.","key":"10.1016\/j.jns.2014.06.029_bb0975","first-page":"48","article-title":"Recent advances of Fabry disease screening for at risk population","volume":"21","author":"Caudron","year":"2005","journal-title":"Med Sci"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb0980","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1007\/s10545-005-0039-4","article-title":"The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients","volume":"28","author":"Lukacs","year":"2005","journal-title":"J Inherit Metab Dis"},{"issue":"10","key":"10.1016\/j.jns.2014.06.029_bb0985","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1373\/clinchem.2008.104711","article-title":"Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry","volume":"54","author":"Zhang","year":"2008","journal-title":"Clin Chem"},{"issue":"1-2","key":"10.1016\/j.jns.2014.06.029_bb0990","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.cca.2009.02.008","article-title":"Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper","volume":"403","author":"Olivova","year":"2009","journal-title":"Clin Chim Acta"},{"issue":"11","key":"10.1016\/j.jns.2014.06.029_bb0995","doi-asserted-by":"crossref","first-page":"1572","DOI":"10.1002\/elps.201200665","article-title":"Testing the feasibility of fully automated chip-based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease","volume":"34","author":"Flangea","year":"2013","journal-title":"Electrophoresis"},{"issue":"11","key":"10.1016\/j.jns.2014.06.029_bb1000","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1471-2350-11-19","article-title":"Frequency of Fabry disease in male and female haemodialysis patients in Spain","volume":"1","author":"Gaspar","year":"2010","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jns.2014.06.029_bb1005","series-title":"La Revue de medecine interne\/fondee par la Societe nationale francaise de medecine interne","first-page":"S209","article-title":"X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease","volume":"31 (Suppl. 2)","author":"Germain","year":"2010"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb1010","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s10545-010-9261-9","article-title":"Toward a consensus in the laboratory diagnostics of Fabry disease \u2014 recommendations of a European expert group","volume":"34","author":"Gal","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jns.2014.06.029_bb1015","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jns.2014.06.029_bb1020","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1025","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1007\/s10545-006-0444-3","article-title":"Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease","volume":"30","author":"Auray-Blais","year":"2007","journal-title":"J Inherit Metab Dis"},{"issue":"447","key":"10.1016\/j.jns.2014.06.029_bb1030","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1080\/08035320510028111","article-title":"Is globotriaosylceramide a useful biomarker in Fabry disease?","volume":"94","author":"Young","year":"2005","journal-title":"Acta Paediatr Suppl"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1035","doi-asserted-by":"crossref","first-page":"139","DOI":"10.2215\/CJN.02490607","article-title":"Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test","volume":"3","author":"Andrade","year":"2008","journal-title":"Clin J Am Soc Nephrol"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1040","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s10545-006-0484-8","article-title":"The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels","volume":"30","author":"Vedder","year":"2007","journal-title":"J Inherit Metab Dis"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb1045","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"PNAS"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1050","doi-asserted-by":"crossref","first-page":"e1091","DOI":"10.1542\/peds.2012-2597","article-title":"Evidence of small-fiber polyneuropathy in unexplained, juvenile-onset, widespread pain syndromes","volume":"131","author":"Oaklander","year":"2013","journal-title":"Pediatrics"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb1055","doi-asserted-by":"crossref","first-page":"e71894","DOI":"10.1371\/journal.pone.0071894","article-title":"Fabry disease \u2014 underestimated in the differential diagnosis of multiple sclerosis?","volume":"28","author":"B\u00f6ttcher","year":"2013","journal-title":"PLoS ONE"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1060","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<436::AID-AJMG14>3.0.CO;2-X","article-title":"Different phenotypic expression in relatives with fabry disease caused by a W226X mutation","volume":"82","author":"Knol","year":"1999","journal-title":"Am J Med Genet"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb1070","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/ndt\/gfi152","article-title":"Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting","volume":"21","author":"Schiffmann","year":"2006","journal-title":"Nephrol Dial Transplant"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1075","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.jpeds.2007.09.007","article-title":"Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease","volume":"152","author":"Wraith","year":"2008","journal-title":"J Pediatr"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb1080","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1371\/journal.pone.0000598","article-title":"Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2mg\/kg","volume":"2","author":"Vedder","year":"2007","journal-title":"PLoS ONE"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1085","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1093\/glycob\/cwg034","article-title":"A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease","volume":"13","author":"Lee","year":"2003","journal-title":"Glycobiology"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb1090","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1007\/s10038-005-0342-9","article-title":"Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice","volume":"51","author":"Sakuraba","year":"2006","journal-title":"J Hum Genet"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb1095","doi-asserted-by":"crossref","first-page":"e598","DOI":"10.1371\/journal.pone.0000598","article-title":"Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2mg\/kg","volume":"2","author":"Vedder","year":"2007","journal-title":"PLoS ONE"},{"key":"10.1016\/j.jns.2014.06.029_bb1100","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1097\/GIM.0b013e3181f6e676","article-title":"Therapeutic goals in the treatment of Fabry disease","volume":"12","author":"Mehta","year":"2010","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1105","doi-asserted-by":"crossref","first-page":"338","DOI":"10.7326\/0003-4819-138-4-200302180-00014","article-title":"Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy","volume":"138","author":"Desnick","year":"2003","journal-title":"Ann Intern Med"},{"issue":"16","key":"10.1016\/j.jns.2014.06.029_bb1110","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.2165\/11318300-000000000-00000","article-title":"Enzyme replacement therapy for Fabry disease: a systematic review of available evidence","volume":"69","author":"Schaefer","year":"2009","journal-title":"Drugs"},{"key":"10.1016\/j.jns.2014.06.029_bb1115","first-page":"183","article-title":"Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis","volume":"9","author":"Kampmann","year":"1966","journal-title":"Clin Ther"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1120","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1007\/s10897-013-9613-3","article-title":"Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors","volume":"22","author":"Laney","year":"2013","journal-title":"J Genet Couns"},{"key":"10.1016\/j.jns.2014.06.029_bb1130","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/j.1651-2227.2003.tb00212.x","article-title":"Evolution of renal pathology in Fabry disease","volume":"443","author":"Sessa","year":"2003","journal-title":"Acta Paediatr Suppl"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1135","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1111\/j.1529-8027.2011.00365.x","article-title":"Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy","volume":"16","author":"Uceyler","year":"2011","journal-title":"J Peripher Nerv Syst"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1140","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1651-2227.2007.00029.x","article-title":"Enzyme replacement therapy with agalsidase alfa in children with Fabry disease","volume":"96","author":"Ramaswami","year":"2007","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jns.2014.06.029_bb1145","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/mus.20550","article-title":"Enzyme replacement therapy and intraepidermal innervation density in Fabry disease","volume":"34","author":"Schiffmann","year":"2006","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb1150","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/mus.10497","article-title":"Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease","volume":"28","author":"Schiffmann","year":"2003","journal-title":"Muscle Nerve"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb1155","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1212\/01.WNL.0000118207.84514.40","article-title":"Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy","volume":"62","author":"Hilz","year":"2004","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1160","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1007\/s10545-006-0339-3","article-title":"Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease","volume":"29","author":"Jardim","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jns.2014.06.029_bb1165","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/mus.10497","article-title":"Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease","volume":"28","author":"Schiffmann","year":"2003","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jns.2014.06.029_bb1175","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1212\/01.WNL.0000118207.84514.40","article-title":"Enzyme replacement therapy improves function of C-, Ad, and Ab-nerve fibers in Fabry neuropathy","volume":"62","author":"Hilz","year":"2004","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1180","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/mus.20550","article-title":"Enzyme replacement therapy and intraepidermal innervation density in Fabry disease","volume":"34","author":"Schiffmann","year":"2006","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1185","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1086\/422366","article-title":"Long-term safety and efficacy of enzyme replacement therapy for Fabry disease","volume":"75","author":"Wilcox","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1190","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1651-2227.2007.00029.x","article-title":"Enzyme replacement therapy with agalsidase alfa in children with Fabry disease","volume":"96","author":"Ramaswami","year":"2007","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jns.2014.06.029_bb1195","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1750-1172-8-47","article-title":"Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain","volume":"8","author":"Rombach","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"12","key":"10.1016\/j.jns.2014.06.029_bb1205","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1016\/j.cgh.2007.08.012","article-title":"Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy","volume":"5","author":"Hoffmann","year":"2007","journal-title":"Clin Gastroenterol Hepatol"},{"issue":"10","key":"10.1016\/j.jns.2014.06.029_bb1210","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1097\/00042737-200410000-00020","article-title":"Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease","volume":"16","author":"Hoffmann","year":"2004","journal-title":"Eur J Gastroenterol Hepatol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1215","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1159\/000168482","article-title":"Agalsidase alfa slows the decline in renal function in patients with Fabry disease","volume":"29","author":"Feriozzi","year":"2009","journal-title":"Am J Nephrol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1220","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1681\/ASN.2008080870","article-title":"Agalsidase alfa and kidney dysfunction in Fabry disease","volume":"20","author":"West","year":"2009","journal-title":"J Am Soc Nephrol"},{"issue":"9","key":"10.1016\/j.jns.2014.06.029_bb1225","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1007\/s00063-009-1152-1","article-title":"Effect of enzyme replacement therapy (ERT) on renal function of patients with Fabry's disease","volume":"104","author":"Thomaidis","year":"2009","journal-title":"Med Klin (Munich)"},{"key":"10.1016\/j.jns.2014.06.029_bb1230","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1750-1172-8-47","article-title":"Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain","volume":"8","author":"Rombach","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1240","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1681\/ASN.2006111263","article-title":"Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing","volume":"18","author":"Schiffmann","year":"2007","journal-title":"J Am Soc Nephrol"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1245","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1681\/ASN.2006080816","article-title":"Sustained, long-term renal stabilization after 54months of agalsidase beta therapy in patients with Fabry disease","volume":"18","author":"Germain","year":"2007","journal-title":"J Am Soc Nephrol"},{"issue":"6","key":"10.1016\/j.jns.2014.06.029_bb1250","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1046\/j.1523-1755.2002.00675.x","article-title":"Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy","volume":"62","author":"Thurberg","year":"2002","journal-title":"Kidney Int"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb1255","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1086\/318809","article-title":"A phase 1\/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies","volume":"68","author":"Eng","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1260","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/joim.12077","article-title":"Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications","volume":"274","author":"Weidemann","year":"2013","journal-title":"J Intern Med"},{"issue":"9","key":"10.1016\/j.jns.2014.06.029_bb1265","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1016\/j.clinthera.2009.09.008","article-title":"Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis","volume":"31","author":"Kampmann","year":"2009","journal-title":"Clin Ther"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb1270","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1542\/peds.2005-2895","article-title":"Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease","volume":"118","author":"Ries","year":"2006","journal-title":"Pediatrics"},{"issue":"7","key":"10.1016\/j.jns.2014.06.029_bb1275","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1023\/B:BOLI.0000005658.14563.77","article-title":"Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study","volume":"26","author":"Baehner","year":"2003","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1280","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human alpha-galactosidase A\u2014replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1285","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/s10545-006-0221-3","article-title":"The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease","volume":"29","author":"Kalliokoski","year":"2006","journal-title":"J Inherit Metab Dis"},{"issue":"11","key":"10.1016\/j.jns.2014.06.029_bb1290","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1161\/01.CIR.0000091253.71282.04","article-title":"Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study","volume":"108","author":"Weidemann","year":"2003","journal-title":"Circulation"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1295","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1161\/CIRCULATIONAHA.108.794529","article-title":"Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment","volume":"119","author":"Weidemann","year":"2009","journal-title":"Circulation"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb1300","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1542\/peds.2005-2895","article-title":"Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease","volume":"118","author":"Ries","year":"2006","journal-title":"Pediatrics"},{"issue":"10","key":"10.1016\/j.jns.2014.06.029_bb1305","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1177\/0091270007305299","article-title":"Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents","volume":"47","author":"Ries","year":"2007","journal-title":"J Clin Pharmacol"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1310","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.jpeds.2007.09.007","article-title":"Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease","volume":"152","author":"Wraith","year":"2008","journal-title":"J Pediatr"},{"key":"10.1016\/j.jns.2014.06.029_bb1315","article-title":"Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy","author":"Deegan","year":"2006","journal-title":"Oxford Pharma Genesis"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1320","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1007\/s10545-005-0018-9","article-title":"Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa","volume":"28","author":"Wendt","year":"2005","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1325","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ejogrb.2009.01.007","article-title":"Enzyme replacement therapy with agalsidase alfa in pregnant women with Fabry disease","volume":"144","author":"Kalkum","year":"2009","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb1330","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ejmg.2009.12.004","article-title":"Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: a case report","volume":"53","author":"Germain","year":"2010","journal-title":"Eur J Med Genet"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb1335","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1111\/j.1447-0756.2009.01164.x","article-title":"Treatment with agalsidase beta during pregnancy in Fabry disease","volume":"36","author":"Politei","year":"2010","journal-title":"J Obstet Gynaecol Res"},{"issue":"12","key":"10.1016\/j.jns.2014.06.029_bb1340","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1111\/j.1365-2362.2004.01424.x","article-title":"Fabry disease: overall effects of agalsidase alfa treatment","volume":"34","author":"Beck","year":"2004","journal-title":"Eur J Clin Investig"},{"key":"10.1016\/j.jns.2014.06.029_bb1345","doi-asserted-by":"crossref","first-page":"155","DOI":"10.2147\/DDDT.S11985","article-title":"Update on role of agalsidase alfa in management of Fabry disease","volume":"5","author":"Ramaswami","year":"2011","journal-title":"Drug Des Dev Ther"},{"issue":"11","key":"10.1016\/j.jns.2014.06.029_bb1350","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1097\/GIM.0b013e3181f13a4a","article-title":"Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry registry","volume":"12","author":"Watt","year":"2010","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb1355","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"Agalsidase-beta therapy for advanced Fabry disease: a randomized trial","volume":"146","author":"Banikazemi","year":"2007","journal-title":"Ann Intern Med"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1360","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1111\/j.1523-1755.2004.00924.x","article-title":"Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta","volume":"66","author":"Linthorst","year":"2004","journal-title":"Kidney Int"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1365","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2008.10.004","article-title":"A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease","volume":"96","author":"Benichou","year":"2009","journal-title":"Mol Genet Metab"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1370","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1111\/j.1523-1755.2004.00924.x","article-title":"Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta","volume":"66","author":"Linthorst","year":"2004","journal-title":"Kidney Int"},{"issue":"10","key":"10.1016\/j.jns.2014.06.029_bb1375","doi-asserted-by":"crossref","first-page":"47805","DOI":"10.1371\/journal.pone.0047805","article-title":"Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome","volume":"7","author":"Rombach","year":"2012","journal-title":"PLoS ONE"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb1385","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.ymgme.2008.03.008","article-title":"Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease","volume":"94","author":"Ohashi","year":"2008","journal-title":"Mol Genet Metab"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb1390","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"PNAS"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb1395","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ymgme.2010.03.020","article-title":"Plasma globotriaosylsphingosine as a biomarker of Fabry disease","volume":"100","author":"Togawa","year":"2010","journal-title":"Mol Genet Metab"},{"issue":"9","key":"10.1016\/j.jns.2014.06.029_bb1400","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.bbadis.2010.05.003","article-title":"Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease","volume":"1802","author":"Rombach","year":"2010","journal-title":"Biochim Biophys Acta"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1405","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.bbadis.2010.09.007","article-title":"Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy","volume":"1812","author":"Van Breemen","year":"2011","journal-title":"Biochim Biophys Acta"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1410","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.bbrc.2010.08.006","article-title":"Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease","volume":"399","author":"Togawa","year":"2010","journal-title":"Biochem Biophys Res Commun"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1415","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/GIM.0b013e31802d8321","article-title":"Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life","volume":"9","author":"Wang","year":"2007","journal-title":"Genet Med"},{"key":"10.1016\/j.jns.2014.06.029_bb1420","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0248-8663(10)70013-8","article-title":"X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease","volume":"2","author":"Germain","year":"2010","journal-title":"Rev Med Interne"},{"issue":"11","key":"10.1016\/j.jns.2014.06.029_bb1425","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1097\/GIM.0b013e3181f6e676","article-title":"Therapeutic goals in the treatment of Fabry disease","volume":"12","author":"Mehta","year":"2010","journal-title":"Genet Med"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb1430","first-page":"704","article-title":"Fabry's disease. Carbamazepine therapy in acrodyniform syndrome","volume":"34","author":"Lenoir","year":"1977","journal-title":"Arch Fr Pediatr"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1435","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1212\/WNL.39.4.598","article-title":"Carbamazepine in Fabry's disease: effective analgesia with dose\u2013dependent exacerbation of autonomic dysfunction","volume":"39","author":"Filling-Katz","year":"1989","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.jns.2014.06.029_bb1440","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1051\/jbio\/2002196020183","article-title":"Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations","volume":"196","author":"Germain","year":"2002","journal-title":"J Soc Biol"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1445","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1023\/A:1025127723729","article-title":"Use of gabapentin to reduce chronic neuropathic pain in Fabry disease","volume":"26","author":"Ries","year":"2003","journal-title":"J Inherit Metab Dis"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb1450","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1212\/WNL.23.8.871","article-title":"Relief of pain of Fabry's disease by diphenylhydantoin","volume":"23","author":"Lockman","year":"1973","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.jns.2014.06.029_bb1455","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1097\/01.gim.0000237866.70357.c6","article-title":"Fabry disease: guidelines for the evaluation and management of multi-organ system involvement","volume":"8","author":"Eng","year":"2006","journal-title":"Genet Med"},{"issue":"8","key":"10.1016\/j.jns.2014.06.029_bb1465","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/jmg.2008.065904","article-title":"Natural course of Fabry disease: changing pattern of causes of death in FOS \u2014 Fabry Outcome Survey","volume":"46","author":"Mehta","year":"2009","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1470","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/ki.2008.576","article-title":"Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy","volume":"75","author":"Thomaidis","year":"2009","journal-title":"Kidney Int"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1475","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/ki.2008.606","article-title":"To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model","volume":"75","author":"Pastores","year":"2009","journal-title":"Kidney Int"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1480","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.ajhg.2009.09.016","article-title":"Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease","volume":"85","author":"Tajima","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1485","doi-asserted-by":"crossref","first-page":"C1076","DOI":"10.1152\/ajpcell.00426.2005","article-title":"Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants","volume":"290","author":"Yam","year":"2006","journal-title":"Am J Physiol Cell Physiol"},{"issue":"1","key":"10.1016\/j.jns.2014.06.029_bb1490","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1096\/fj.04-2375com","article-title":"A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder","volume":"19","author":"Yam","year":"2005","journal-title":"FASEB J"},{"issue":"19","key":"10.1016\/j.jns.2014.06.029_bb1495","doi-asserted-by":"crossref","first-page":"4962","DOI":"10.1111\/j.1742-4658.2007.06041.x","article-title":"Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors","volume":"274","author":"Fan","year":"2007","journal-title":"FEBS J"},{"issue":"Suppl. 1","key":"10.1016\/j.jns.2014.06.029_bb1500","first-page":"S111","article-title":"Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies","volume":"47","author":"Germain","year":"2009","journal-title":"Int J Clin Pharmacol Ther"},{"issue":"4","key":"10.1016\/j.jns.2014.06.029_bb1505","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.ymgme.2008.12.017","article-title":"Molecular interaction of imino sugars with human alpha-galactosidase: insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease","volume":"96","author":"Sugawara","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jns.2014.06.029_bb1510","unstructured":"Cranbury, N.J., Jan. 6, 2012 (Globe Newswire)."},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1515","doi-asserted-by":"crossref","first-page":"2676","DOI":"10.1073\/pnas.051634498","article-title":"Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice","volume":"98","author":"Jung","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"21","key":"10.1016\/j.jns.2014.06.029_bb1520","doi-asserted-by":"crossref","first-page":"13777","DOI":"10.1073\/pnas.222221899","article-title":"Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer","volume":"99","author":"Takahashi","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"10.1016\/j.jns.2014.06.029_bb1525","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/emmm.200900036","article-title":"Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics","volume":"1","author":"Parenti","year":"2009","journal-title":"EMBO"},{"issue":"3","key":"10.1016\/j.jns.2014.06.029_bb1530","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.ymgme.2008.10.017","article-title":"Long-term inhibition of glycosphingolipid accumulation in Fabry model mice by a single systemic injection of AAV1 vector in the neonatal period","volume":"96","author":"Ogawa","year":"2009","journal-title":"Mol Genet Metab"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X14003992?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X14003992?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T19:06:08Z","timestamp":1716836768000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X14003992"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":294,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["S0022510X14003992"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2014.06.029","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Fabry's disease","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2014.06.029","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}