{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T16:11:19Z","timestamp":1790525479821,"version":"4.1.0"},"reference-count":81,"publisher":"JLE","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T00:00:00Z","timestamp":1591228800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["N\u00e9phrologie &amp; Th\u00e9rapeutique"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1016\/j.nephro.2020.02.005","type":"journal-article","created":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T11:17:11Z","timestamp":1619349431000},"page":"S11-S22","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"S","title":["Mol\u00e9cules chaperons\u00a0: exemple de la maladie de Fabry"],"prefix":"10.1684","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3469-5803","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9ric","family":"Barbey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3083-7333","authenticated-orcid":false,"given":"Pierre","family":"Monney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Dormond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"18929","reference":[{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0410","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":"9813","key":"10.1016\/j.nephro.2020.02.005_bib0415","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0140-6736(11)61266-X","article-title":"Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria","volume":"379","author":"Mechtler","year":"2012","journal-title":"Lancet"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0420","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1136\/jmedgenet-2017-105080","article-title":"Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995\u20132017","volume":"55","author":"Doheny","year":"2018","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0425","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","article-title":"Fabry disease revisited: management and treatment recommendations for adult patients","volume":"123","author":"Ortiz","year":"2018","journal-title":"Mol Genet Metab"},{"issue":"5","key":"10.1016\/j.nephro.2020.02.005_bib0430","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1681\/ASN.2016090964","article-title":"Characterization of classical and nonclassical Fabry disease: a multicenter study","volume":"28","author":"Arends","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.nephro.2020.02.005_bib0435","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/1750-1172-8-116","article-title":"Fibrosis: a key feature of Fabry disease with potential therapeutic implications","volume":"8","author":"Weidemann","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"10.1016\/j.nephro.2020.02.005_bib0440","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/eurheartj\/ehp426","article-title":"Aortic remodelling in Fabry disease","volume":"31","author":"Barbey","year":"2010","journal-title":"Eur Heart J"},{"issue":"7","key":"10.1016\/j.nephro.2020.02.005_bib0445","doi-asserted-by":"crossref","first-page":"e0180437","DOI":"10.1371\/journal.pone.0180437","article-title":"Long-term follow-up of pulmonary function in Fabry disease: a bi-center observational study","volume":"12","author":"Franzen","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.nephro.2020.02.005_bib0450","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0455","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","article-title":"X-chromosome inactivation in female patients with Fabry disease","volume":"89","author":"Echevarria","year":"2016","journal-title":"Clin Genet"},{"issue":"7","key":"10.1016\/j.nephro.2020.02.005_bib0460","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1023\/A:1012993305223","article-title":"Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes","volume":"24","author":"Whybra","year":"2001","journal-title":"J Inherit Metab Dis"},{"issue":"1\u20132","key":"10.1016\/j.nephro.2020.02.005_bib0465","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.ymgme.2016.10.006","article-title":"Plasma LysoGb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes","volume":"120","author":"Nowak","year":"2017","journal-title":"Mol Genet Metab"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0470","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N Engl J Med"},{"issue":"21","key":"10.1016\/j.nephro.2020.02.005_bib0475","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":"J.A.M.A."},{"issue":"2","key":"10.1016\/j.nephro.2020.02.005_bib0480","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.kint.2016.10.004","article-title":"Screening, diagnosis, and management of patients with Fabry disease: conclusions from a \u201cKidney Disease: Improving Global Outcomes\u201d (KDIGO) Controversies Conference","volume":"91","author":"Schiffmann","year":"2017","journal-title":"Kidney Int"},{"issue":"11","key":"10.1016\/j.nephro.2020.02.005_bib0485","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1097\/GIM.0b013e3181f13b75","article-title":"Effects of enzyme replacement therapy in Fabry disease\u00a0\u2013\u00a0a comprehensive review of the medical literature","volume":"12","author":"Lidove","year":"2010","journal-title":"Genet Med"},{"issue":"Suppl. 1","key":"10.1016\/j.nephro.2020.02.005_bib0490","doi-asserted-by":"crossref","first-page":"S105","DOI":"10.1016\/j.nephro.2016.02.003","article-title":"Treatment of Fabry disease: successes, failures, and expectations","volume":"12","author":"Lidove","year":"2016","journal-title":"Nephrol Ther"},{"issue":"5","key":"10.1016\/j.nephro.2020.02.005_bib0495","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmedgenet-2014-102797","article-title":"Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease","volume":"52","author":"Germain","year":"2015","journal-title":"J Med Genet"},{"key":"10.1016\/j.nephro.2020.02.005_bib0500","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/S0076-6879(03)01069-3","article-title":"Cell-based screening of active-site specific chaperone for the treatment of Fabry disease","volume":"363","author":"Fan","year":"2003","journal-title":"Methods Enzymol"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0505","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":"6\u20137","key":"10.1016\/j.nephro.2020.02.005_bib0510","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1051\/medsci\/2010266-7627","article-title":"Pharmacological chaperones: a potential therapeutic treatment for conformational diseases","volume":"26","author":"Mendre","year":"2010","journal-title":"Med Sci (Paris)"},{"issue":"3","key":"10.1016\/j.nephro.2020.02.005_bib0515","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/nrm1052","article-title":"Quality control in the endoplasmic reticulum","volume":"4","author":"Ellgaard","year":"2003","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0520","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/nrm780","article-title":"Retro-translocation of proteins from the endoplasmic reticulum into the cytosol","volume":"3","author":"Tsai","year":"2002","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0525","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/nrd769","article-title":"Therapeutic strategies for human amyloid diseases","volume":"1","author":"Sacchettini","year":"2002","journal-title":"Nat Rev Drug Discov"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0530","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/4801","article-title":"Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor","volume":"5","author":"Fan","year":"1999","journal-title":"Nat Med"},{"issue":"2","key":"10.1016\/j.nephro.2020.02.005_bib0535","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1074\/jbc.271.2.635","article-title":"Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation","volume":"271","author":"Sato","year":"1996","journal-title":"J Biol Chem"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0540","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1681\/ASN.2005080854","article-title":"Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus","volume":"17","author":"Bernier","year":"2006","journal-title":"J Am Soc Nephrol"},{"issue":"10","key":"10.1016\/j.nephro.2020.02.005_bib0545","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1681\/ASN.2008121289","article-title":"Biased agonist pharmacochaperones of the AVP V2\u00a0receptor may treat congenital nephrogenic diabetes insipidus","volume":"20","author":"Jean-Alphonse","year":"2009","journal-title":"J Am Soc Nephrol"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0550","doi-asserted-by":"crossref","first-page":"F253","DOI":"10.1152\/ajprenal.00247.2006","article-title":"Functional rescue of vasopressin V2\u00a0receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus","volume":"292","author":"Robben","year":"2007","journal-title":"Am J Physiol Renal Physiol"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0555","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1002\/cbic.200390045","article-title":"Chemical chaperones\u00a0\u2013\u00a0a new concept in drug research","volume":"4","author":"Kolter","year":"2003","journal-title":"Chembiochem"},{"issue":"6\u20137","key":"10.1016\/j.nephro.2020.02.005_bib0560","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1051\/medsci\/2013296009","article-title":"Pharmacological chaperons: a novel therapeutic approach for genetic diseases","volume":"29","author":"Germain","year":"2013","journal-title":"Med Sci (Paris)"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0565","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":"13","key":"10.1016\/j.nephro.2020.02.005_bib0570","doi-asserted-by":"crossref","first-page":"4179","DOI":"10.1046\/j.1432-1327.2000.01457.x","article-title":"In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives","volume":"267","author":"Asano","year":"2000","journal-title":"Eur J Biochem"},{"issue":"12","key":"10.1016\/j.nephro.2020.02.005_bib0575","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1016\/j.chembiol.2011.10.012","article-title":"The molecular basis of pharmacological chaperoning in human alpha-galactosidase","volume":"18","author":"Guce","year":"2011","journal-title":"Chem Biol"},{"key":"10.1016\/j.nephro.2020.02.005_bib0580","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.phrs.2014.01.005","article-title":"Pharmacological chaperoning: a primer on mechanism and pharmacology","volume":"83","author":"Leidenheimer","year":"2014","journal-title":"Pharmacol Res"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0585","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":"4","key":"10.1016\/j.nephro.2020.02.005_bib0590","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1038\/gim.2016.122","article-title":"The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat","volume":"19","author":"Benjamin","year":"2017","journal-title":"Genet Med"},{"issue":"8","key":"10.1016\/j.nephro.2020.02.005_bib0595","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1002\/humu.21530","article-title":"A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry disease","volume":"32","author":"Wu","year":"2011","journal-title":"Hum Mutat"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0600","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmedgenet-2016-104178","article-title":"Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study","volume":"54","author":"Hughes","year":"2017","journal-title":"J Med Genet"},{"issue":"6","key":"10.1016\/j.nephro.2020.02.005_bib0605","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","article-title":"The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies","volume":"136","author":"Stenson","year":"2017","journal-title":"Hum Genet"},{"key":"10.1016\/j.nephro.2020.02.005_bib0610","article-title":"Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort","author":"Nowak","year":"2019","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0615","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1681\/ASN.2014121226","article-title":"Serum-mediated inhibition of enzyme replacement therapy in Fabry disease","volume":"27","author":"Lenders","year":"2016","journal-title":"J Am Soc Nephrol"},{"issue":"7","key":"10.1016\/j.nephro.2020.02.005_bib0620","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1038\/mt.2015.62","article-title":"Pharmacological chaperone therapy: preclinical development. Clinical translation, and prospects for the treatment of lysosomal storage disorders","volume":"23","author":"Parenti","year":"2015","journal-title":"Mol Ther"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0625","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"},{"issue":"Suppl. 1","key":"10.1016\/j.nephro.2020.02.005_bib0630","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":"2","key":"10.1016\/j.nephro.2020.02.005_bib0635","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1042\/BJ20070479","article-title":"Mutant alphagalactosidase. 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":"3","key":"10.1016\/j.nephro.2020.02.005_bib0640","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1124\/jpet.108.149054","article-title":"Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease","volume":"328","author":"Ishii","year":"2009","journal-title":"J Pharmacol Exp Ther"},{"issue":"3","key":"10.1016\/j.nephro.2020.02.005_bib0645","doi-asserted-by":"crossref","first-page":"e57631","DOI":"10.1371\/journal.pone.0057631","article-title":"Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients","volume":"8","author":"Young-Gqamana","year":"2013","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.nephro.2020.02.005_bib0650","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"},{"issue":"2","key":"10.1016\/j.nephro.2020.02.005_bib0655","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/cpdd.1","article-title":"Pharmacokinetics and safety of migalastat HCl and effects on agalsidase activity in healthy volunteers","volume":"2","author":"Johnson","year":"2013","journal-title":"Clin Pharmacol Drug Dev"},{"issue":"3","key":"10.1016\/j.nephro.2020.02.005_bib0660","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/cpdd.147","article-title":"Relative bioavailability and the effect of meal type and timing on the pharmacokinetics of migalastat in healthy volunteers","volume":"4","author":"Johnson","year":"2015","journal-title":"Clin Pharmacol Drug Dev"},{"issue":"5","key":"10.1016\/j.nephro.2020.02.005_bib0665","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s40265-019-01090-4","article-title":"Migalastat: a review in Fabry disease","volume":"79","author":"McCafferty","year":"2019","journal-title":"Drugs"},{"issue":"4","key":"10.1016\/j.nephro.2020.02.005_bib0670","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/cpdd.149","article-title":"An open-label study to determine the pharmacokinetics and safety of migalastat HCl in subjects with impaired renal function and healthy subjects with normal renal function","volume":"4","author":"Johnson","year":"2015","journal-title":"Clin Pharmacol Drug Dev"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0675","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.ymgme.2013.01.009","article-title":"A Phase 2\u00a0study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects","volume":"109","author":"Giugliani","year":"2013","journal-title":"Mol Genet Metab"},{"issue":"8","key":"10.1016\/j.nephro.2020.02.005_bib0680","doi-asserted-by":"crossref","first-page":"e0134341","DOI":"10.1371\/journal.pone.0134341","article-title":"Oral Migalastat HCl Leads to greater systemic exposure and tissue levels of active alpha-galactosidase A in Fabry patients when co-administered with infused agalsidase","volume":"10","author":"Warnock","year":"2015","journal-title":"PLoS One"},{"issue":"6","key":"10.1016\/j.nephro.2020.02.005_bib0685","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of Fabry's disease with the pharmacologic chaperone migalastat","volume":"375","author":"Germain","year":"2016","journal-title":"N Engl J Med"},{"issue":"9","key":"10.1016\/j.nephro.2020.02.005_bib0690","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1038\/s41436-019-0451-z","article-title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3\u00a0randomized, multicenter, double-blind clinical trial and extension study","volume":"21","author":"Germain","year":"2019","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0695","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/s13023-018-0813-7","article-title":"Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3\u00a0FACETS trial","volume":"13","author":"Schiffmann","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0700","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/S0002-9149(02)02381-0","article-title":"Comparison of interstudy reproducibility of cardiovascular magnetic resonance with two-dimensional echocardiography in normal subjects and in patients with heart failure or left ventricular hypertrophy","volume":"90","author":"Grothues","year":"2002","journal-title":"Am J Cardiol"},{"issue":"8","key":"10.1016\/j.nephro.2020.02.005_bib0705","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/j.cjca.2018.03.011","article-title":"Comparison of cardiac magnetic resonance imaging and echocardiography in assessment of left ventricular hypertrophy in Fabry disease","volume":"34","author":"Hazari","year":"2018","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.nephro.2020.02.005_bib0710","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/1750-1172-7-91","article-title":"Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2\u00a0clinical studies","volume":"7","author":"Germain","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nephro.2020.02.005_bib0715","first-page":"33","article-title":"Clinical outcomes with migalastat in patients with Fabry disease based on degree of renal impairment: results from phase 3\u00a0trials","author":"Torra","year":"2018","journal-title":"Nephrol Dial Transpl."},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0720","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s13023-016-0441-z","article-title":"Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant","volume":"11","author":"Lenders","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nephro.2020.02.005_bib0725","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/8904_2012_167","article-title":"Questioning the Pathogenic Role of the GLA p.Ala143Thr \u201cMutation\u201d in Fabry disease: Implications for Screening Studies and ERT","volume":"8","author":"Terryn","year":"2013","journal-title":"Jimd Rep"},{"key":"10.1016\/j.nephro.2020.02.005_bib0730","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/ndt\/gfy104.SP004","article-title":"Effects of long-term migalastat treatment on renal function by baseline proteinuria in patients (Pts) with Fabry disease. Abstract","volume":"33","author":"Schiffmann","year":"2018","journal-title":"Nephrol Dial Transpl"},{"issue":"2","key":"10.1016\/j.nephro.2020.02.005_bib0735","doi-asserted-by":"crossref","first-page":"S105","DOI":"10.1016\/j.ymgme.2017.12.279","article-title":"Renal outcomes with up to 9\u00a0years of migalastat in patients with Fabry disease: results from an open-label extension study. Abstract","volume":"123","author":"Nicholls","year":"2018","journal-title":"Molecular Genetics and Metabolism"},{"issue":"5","key":"10.1016\/j.nephro.2020.02.005_bib0740","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1002\/cpt.1321","article-title":"Oral chaperone therapy migalastat for treating Fabry disease: enzymatic response and serum biomarker changes after 1\u00a0year","volume":"105","author":"Muntze","year":"2019","journal-title":"Clin Pharmacol Ther"},{"issue":"9","key":"10.1016\/j.nephro.2020.02.005_bib0745","doi-asserted-by":"crossref","first-page":"e894","DOI":"10.1002\/mgg3.894","article-title":"Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy","volume":"7","author":"Lamari","year":"2019","journal-title":"Mol Genet Genomic Med"},{"issue":"2","key":"10.1016\/j.nephro.2020.02.005_bib0750","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/s10545-017-0098-3","article-title":"Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy","volume":"41","author":"Burlina","year":"2018","journal-title":"J Inherit Metab Dis"},{"issue":"6","key":"10.1016\/j.nephro.2020.02.005_bib0755","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":"12","key":"10.1016\/j.nephro.2020.02.005_bib0760","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1038\/gim.2016.55","article-title":"Is it Fabry disease?","volume":"18","author":"Schiffmann","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.nephro.2020.02.005_bib0765","doi-asserted-by":"crossref","first-page":"780","DOI":"10.2119\/molmed.2012.00002","article-title":"Fabry disease: incidence of the common later-onset alpha-galactosidase A IVS4+919G-->A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations","volume":"18","author":"Chien","year":"2012","journal-title":"Mol Med."},{"issue":"8","key":"10.1016\/j.nephro.2020.02.005_bib0770","doi-asserted-by":"crossref","first-page":"e0182379","DOI":"10.1371\/journal.pone.0182379","article-title":"Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: analysis of prognostic factors","volume":"12","author":"Arends","year":"2017","journal-title":"PLoS One"},{"issue":"7","key":"10.1016\/j.nephro.2020.02.005_bib0775","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1517\/14712598.4.7.1167","article-title":"Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval","volume":"4","author":"Desnick","year":"2004","journal-title":"Expert Opin Biol Ther"},{"issue":"5","key":"10.1016\/j.nephro.2020.02.005_bib0780","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1111\/j.1365-2125.2009.03501.x","article-title":"Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies","volume":"68","author":"Tesmoingt","year":"2009","journal-title":"Br J Clin Pharmacol"},{"issue":"10","key":"10.1016\/j.nephro.2020.02.005_bib0785","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1002\/pds.3787","article-title":"Association between trajectories of statin adherence and subsequent cardiovascular events","volume":"24","author":"Franklin","year":"2015","journal-title":"Pharmacoepidemiol Drug Saf"},{"issue":"1","key":"10.1016\/j.nephro.2020.02.005_bib0790","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s11096-013-9866-9","article-title":"Treatment beliefs, illness perceptions, and non-adherence to antiretroviral therapy in an ethnically diverse patient population","volume":"36","author":"Gunther","year":"2014","journal-title":"Int J Clin Pharm"},{"issue":"386","key":"10.1016\/j.nephro.2020.02.005_bib0795","first-page":"1032","article-title":"Medication adherence in chronic patients: from its concepts to its management in primary care","volume":"9","author":"Schneider","year":"2013","journal-title":"Rev Med Suisse"},{"issue":"8\u20139","key":"10.1016\/j.nephro.2020.02.005_bib0800","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.crvi.2015.07.004","article-title":"Choosing among possible persons: the ethics of prenatal selection in the postgenomic age","volume":"338","author":"Mauron","year":"2015","journal-title":"C R Biol"},{"issue":"4\u20135","key":"10.1016\/j.nephro.2020.02.005_bib0805","first-page":"1005","article-title":"Ten years\u2019 experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions","volume":"195","author":"Frydman","year":"2011","journal-title":"Bull Acad Natl Med"},{"issue":"10","key":"10.1016\/j.nephro.2020.02.005_bib0405","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/nbt1018-913","article-title":"FDA approves Galafold, a triumph for Amicus","volume":"36","author":"Moran","year":"2018","journal-title":"Nat Biotechnol"}],"container-title":["N\u00e9phrologie &amp; Th\u00e9rapeutique"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769725520300134?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769725520300134?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.jle.com\/10.1016\/j.nephro.2020.02.005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T16:17:14Z","timestamp":1741191434000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769725520300134"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":81,"alternative-id":["S1769725520300134"],"URL":"https:\/\/doi.org\/10.1016\/j.nephro.2020.02.005","relation":{},"ISSN":["1769-7255"],"issn-type":[{"value":"1769-7255","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mol\u00e9cules chaperons\u00a0: exemple de la maladie de Fabry","name":"articletitle","label":"Article Title"},{"value":"N\u00e9phrologie & Th\u00e9rapeutique","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nephro.2020.02.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Authors. Published by Elsevier Masson SAS on behalf of Soci\u00e9t\u00e9 francophone de n\u00e9phrologie, dialyse et transplantation.","name":"copyright","label":"Copyright"}]}}