{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:21:39Z","timestamp":1791397299228,"version":"4.3.3"},"reference-count":71,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1253,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1111\/j.1365-2133.2012.10742.x","type":"journal-article","created":{"date-parts":[[2012,3,27]],"date-time":"2012-03-27T16:46:03Z","timestamp":1332866763000},"page":"712-720","source":"Crossref","is-referenced-by-count":52,"title":["Angiokeratoma: decision-making aid for the diagnosis of Fabry disease"],"prefix":"10.1093","volume":"166","author":[{"given":"A.","family":"Zampetti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.H.","family":"Orteu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Antuzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.R.","family":"Bongiorno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Manco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gnarra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Morrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Cardinali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kovacs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Aspite","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Linder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Parini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Feliciani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Interdisciplinary Study Group on Fabry Disease (ISGF)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,3,27]]},"reference":[{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB1|cit1","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":"10.1111\/j.1365-2133.2012.10742.x-BIB2|cit2","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"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB3|cit3","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.bbadis.2009.11.003","article-title":"Functional studies of new GLA gene mutations leading to conformational Fabry disease","volume":"1802","author":"Filoni","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB4|cit4","first-page":"227","article-title":"Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype\/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes","volume":"48","author":"Ashton-Prolla","year":"2000","journal-title":"J Investig Med"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB5|cit5","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":"10.1111\/j.1365-2133.2012.10742.x-BIB6|cit6","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/j.1651-2227.2002.tb03107.x","article-title":"Mechanisms of neuropathic pain and their importance in Fabry disease","volume":"91","author":"Birklein","year":"2002","journal-title":"Acta Paediatr Suppl"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB7|cit7","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1007\/s10545-009-1290-x","article-title":"Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey","volume":"32","author":"Keilmann","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB8|cit8","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"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB9|cit9","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":"10.1111\/j.1365-2133.2012.10742.x-BIB10|cit10","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.pcad.2009.11.002","article-title":"Anderson-Fabry disease and the heart","volume":"52","author":"O\u2019Mahony","year":"2010","journal-title":"Prog Cardiovasc Dis"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB11|cit11","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1007\/s10157-005-0369-4","article-title":"Significance of screening for Fabry disease among male dialysis patients","volume":"9","author":"Ichinose","year":"2005","journal-title":"Clin Exp Nephrol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB12|cit12","first-page":"32","article-title":"Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy","volume":"21","author":"Breunig","year":"2008","journal-title":"J Nephrol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB13|cit13","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":"10.1111\/j.1365-2133.2012.10742.x-BIB14|cit14","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":"Wosniak","year":"2010","journal-title":"Stroke"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB15|cit15","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","article-title":"Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry","volume":"11","author":"Waldek","year":"2009","journal-title":"Genet Med"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB16|cit16","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"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB17|cit17","first-page":"347","article-title":"Natural history of Fabry disease in females in the Fabry Outcome Survey","volume":"4","author":"Deegan","year":"2006","journal-title":"J Med Genet"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB18|cit18","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":"10.1111\/j.1365-2133.2012.10742.x-BIB19|cit19","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1517\/14712590902902296","article-title":"The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease","volume":"9","author":"Morel","year":"2009","journal-title":"Expert Opin Biol Ther"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB20|cit20","doi-asserted-by":"crossref","first-page":"435","DOI":"10.2165\/00003495-200767030-00007","article-title":"Agalsidase beta: a review of its use in the management of Fabry disease","volume":"67","author":"Keating","year":"2007","journal-title":"Drugs"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB21|cit21","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 Mol Med"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB22|cit22","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.bbadis.2004.07.001","article-title":"Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease","volume":"1690","author":"Ishii","year":"2004","journal-title":"Biochim Biophys Acta"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB23|cit23","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1097\/FPC.0b013e32830500f4","article-title":"Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone","volume":"18","author":"Shin","year":"2008","journal-title":"Pharmacogenet Genomics"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB24|cit24","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1038\/nrg963","article-title":"Enzyme replacement and enhancement therapies: lessons from lysosomal disorders","volume":"3","author":"Desnick","year":"2002","journal-title":"Nat Rev Genet"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB25|cit25","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.bbadis.2008.03.001","article-title":"Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes","volume":"1782","author":"Hamanaka","year":"2008","journal-title":"Biochim Biophys Acta"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB26|cit26","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/mt.2009.220","article-title":"The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease","volume":"18","author":"Khanna","year":"2010","journal-title":"Mol Ther"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB27|cit27","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/s10545-009-1077-0","article-title":"The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines","volume":"32","author":"Benjamin","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB28|cit28","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males","volume":"38","author":"MacDermot","year":"2001","journal-title":"J Med Genet"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB29|cit29","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1365-2133.2007.08002.x","article-title":"Fabry disease and the skin: data from FOS, the Fabry outcome survey","volume":"157","author":"Orteu","year":"2007","journal-title":"Br J Dermatol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB30|cit30","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"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB31|cit31","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"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB32|cit32","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1067\/moe.2001.114833","article-title":"Oral and craniofacial findings in Fabry\u2019s disease: a report of 13 patients","volume":"92","author":"Baccaglini","year":"2001","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB33|cit33","volume-title":"Atlas and Synopsis of Lever\u2019s Histopathology of the Skin","author":"Elder","year":"2007"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB34|cit34","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1007\/s00401-005-0026-8","article-title":"Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients","volume":"111","author":"Navarro","year":"2006","journal-title":"Acta Neuropathol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB35|cit35","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1111\/j.0303-6987.2005.00366.x","article-title":"Fucosidosis with angiokeratoma. Immunohistochemical and electronmicroscopic study of a new case and literature review","volume":"32","author":"Kanitakis","year":"2005","journal-title":"J Cutan Pathol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB36|cit36","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1097\/00019052-199904000-00007","article-title":"Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III","volume":"12","author":"Krivit","year":"1999","journal-title":"Curr Opin Neurol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB37|cit37","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/humu.10268","article-title":"Molecular pathology of NEU1 gene in sialidosis","volume":"22","author":"Seyrantepe","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB38|cit38","first-page":"174","article-title":"Sialidosis type I (cherry red spot-myoclonus syndrome)","volume":"102","author":"Ganguly","year":"2004","journal-title":"J Indian Med Assoc"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB39|cit39","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ymgme.2008.04.012","article-title":"GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects","volume":"94","author":"Brunetti-Pierri","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB40|cit40","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<453::AID-AJMG2>3.0.CO;2-Q","article-title":"Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient","volume":"64","author":"Zammarchi","year":"1996","journal-title":"Am J Med Gene"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB41|cit41","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.jaad.2007.01.037","article-title":"Angiokeratoma corporis diffusum in human beta-mannosidosis: report of a new case and a novel mutation","volume":"57","author":"Molho-Pessach","year":"2007","journal-title":"J Am Acad Dermatol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB42|cit42","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1046\/j.1365-2133.2001.04028.x","article-title":"A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with M\u00e9ni\u00e8re\u2019s syndrome and without mental retardation","volume":"144","author":"Kodama","year":"2001","journal-title":"Br J Dermatol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB43|cit43","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.jmb.2009.08.021","article-title":"The 1.9 a structure of human alpha-N-acetylgalactosaminidase: the molecular basis of Schindler and Kanzaki diseases","volume":"393","author":"Clark","year":"2009","journal-title":"J Mol Biol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB44|cit44","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1046\/j.1365-2133.2002.04827.x","article-title":"Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria","volume":"147","author":"Vargas-D\u00edez","year":"2002","journal-title":"Br J Dermatol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB45|cit45","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1001\/archderm.142.5.615","article-title":"Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities","volume":"142","author":"Kelly","year":"2006","journal-title":"Arch Derm"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB46|cit46","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/S0190-9622(84)80012-2","article-title":"Angiokeratoma corporis diffusum in a patient with normal enzyme activities","volume":"10","author":"Holmes","year":"1984","journal-title":"J Am Acad Dermatol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB47|cit47","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1007\/s001050050339","article-title":"[Angiokeratoma corporis diffusum without associated metabolic disorder]","volume":"46","author":"Gerbig","year":"1995","journal-title":"Hautarzt"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB48|cit48","first-page":"255","article-title":"Angiokeratoma: apropos of 93 cases","volume":"16","author":"Naranjo Sintes","year":"1988","journal-title":"Med Cutan Iber Lat Am"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB49|cit49","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1136\/emj.2006.038745","article-title":"Angiokeratoma of the scrotum: a case of scrotal bleeding","volume":"23","author":"Trickett","year":"2006","journal-title":"Emerg Med J"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB50|cit50","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1159\/000246270","article-title":"Angiokeratomas: an update","volume":"193","author":"Schiller","year":"1996","journal-title":"Dermatology"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB51|cit51","doi-asserted-by":"crossref","first-page":"418","DOI":"10.3109\/01443611003698703","article-title":"Vulvar angiokeratoma","volume":"30","author":"Nomelini","year":"2010","journal-title":"J Obstet Gynaecol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB52|cit52","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1468-3083.2005.01299.x","article-title":"Thrombosed solitary angiokeratoma of Mibelli simulating malignant melanoma: the importance of dermoscopy in differential diagnosis","volume":"20","author":"Sahin","year":"2006","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB53|cit53","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1111\/j.1346-8138.2006.00115.x","article-title":"Angiokeratoma circumscriptum arranged in a systematized band-like pattern suggesting mosaicism","volume":"33","author":"Bechara","year":"2006","journal-title":"J Dermatol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB54|cit54","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1111\/j.1346-8138.2006.00200.x","article-title":"Eruptive cherry angiomas associated with vitiligo: provoked by topical nitrogen mustard?","volume":"33","author":"Ma","year":"2006","journal-title":"J Dermatol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB55|cit55","doi-asserted-by":"crossref","first-page":"51","DOI":"10.2340\/00015555745456","article-title":"Carbonic anhydrase is abundant in fenestrated capillaries of cherry hemangioma","volume":"74","author":"Eichhorn","year":"1994","journal-title":"Acta Derm Venereol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB56|cit56","first-page":"475","article-title":"Coexistence of Fabry\u2019s disease and systemic lupus erythematosus","volume":"16","author":"Rahman","year":"1998","journal-title":"Clin Exp Rheumatol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB57|cit57","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1503\/cmaj.081739","article-title":"Hereditary hemorrhagic telangiectasia","volume":"180","author":"Grand\u2019Maison","year":"2009","journal-title":"CMAJ"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB58|cit58","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1111\/j.1538-7836.2010.03860.x","article-title":"Hereditary hemorrhagic telangiectasia: from molecular biology to patient care","volume":"8","author":"Dupuis-Girod","year":"2010","journal-title":"J Thromb Haemost"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB59|cit59","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/ejhg.2009.35","article-title":"Hereditary haemorrhagic telangiectasia: a clinical and scientific review","volume":"17","author":"Govani","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB60|cit60","first-page":"306","article-title":"Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5","volume":"11","author":"Brokalaki","year":"2006","journal-title":"Eur J Med Res"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB61|cit61","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"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB62|cit62","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.2009.072116","article-title":"Screening for Fabry disease in high-risk populations: a systematic review","volume":"47","author":"Linthorst","year":"2010","journal-title":"J Med Genet"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB63|cit63","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s11019-009-9227-6","article-title":"Informed decision making about predictive DNA tests: arguments for more public visibility of personal deliberations about the good life","volume":"13","author":"Boenink","year":"2010","journal-title":"Med Health Care Philos"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB64|cit64","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1016\/S0272-2712(18)30312-3","article-title":"Ethical issues in screening and testing for genetic diseases","volume":"15","author":"Kadlec","year":"1995","journal-title":"Clin Lab Med"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB65|cit65","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1016\/S0140-6736(10)60173-0","article-title":"Confidentiality and sharing genetic information with relatives","volume":"375","author":"Lucassen","year":"2010","journal-title":"Lancet"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB66|cit66","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/978-90-481-9485-8_16","article-title":"Cost of illness and economic evaluation in rare diseases","volume":"686","author":"L\u00f3pez-Bastida","year":"2010","journal-title":"Adv Exp Med Biol"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB67|cit67","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.1016\/S0140-6736(08)60872-7","article-title":"Why rare diseases are an important medical and social issue","volume":"371","author":"Schieppati","year":"2008","journal-title":"Lancet"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB68|cit68","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1016\/j.revmed.2009.04.003","article-title":"Clinical efficacy of enzyme replacement therapy in Fabry disease. A critical review","volume":"30","author":"Lidove","year":"2009","journal-title":"Rev Med Intern"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB69|cit69","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.2174\/092986710791111297","article-title":"Enzyme replacement therapy in Fabry disease: influence on cardiac manifestations","volume":"17","author":"Caballero","year":"2010","journal-title":"Curr Med Chem"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB70|cit70","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1093\/qjmed\/hcq117","article-title":"Fabry disease: a review of current management strategies","volume":"103","author":"Mehta","year":"2010","journal-title":"QJM"},{"key":"10.1111\/j.1365-2133.2012.10742.x-BIB71|cit71","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"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2012.10742.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/j.1365-2133.2012.10742.x\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T07:27:23Z","timestamp":1713770843000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/166\/4\/712\/6613719"}},"subtitle":["Angiokeratoma, proposal for a diagnostic algorithm"],"short-title":[],"issued":{"date-parts":[[2012,3,27]]},"references-count":71,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"URL":"https:\/\/doi.org\/10.1111\/j.1365-2133.2012.10742.x","relation":{},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2012,3,27]]}}}