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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain, Dominique P; Oliveira, João Paulo; Bichet, Daniel G; Yoo, Han-Wook; Hopkin, Robert J; Lemay, Roberta; Politei, Juan; Wanner, Christoph; Wilcox, William R; Warnock, David G.
Afiliação
  • Germain DP; French Referral Centre for Fabry disease, Division of Medical Genetics, University of Versailles, Paris-Saclay University, Montigny, France dominique.germain@uvsq.fr.
  • Oliveira JP; Department of Genetics, São João Hospital Centre & Faculty of Medicine, University of Porto, Porto, Portugal.
  • Bichet DG; Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal.
  • Yoo HW; Nephrology Service, Research Center, Hôpital du Sacré-Coeur de Montréal, Montreal, Québec, Canada.
  • Hopkin RJ; Departments of Medicine, Pharmacology and Physiology, University of Montreal, Montreal, Québec, Canada.
  • Lemay R; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Politei J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Wanner C; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • Wilcox WR; Sanofi Genzyme, Cambridge, Massachusetts, USA.
  • Warnock DG; Department of Neurology, Fundación Para el Estudio de Enfermedades Neurómetabolicas (FESEN), Buenos Aires, Argentina.
J Med Genet ; 57(8): 542-551, 2020 08.
Article em En | MEDLINE | ID: mdl-32161151
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Doenças Raras Tipo de estudo: Prognostic_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Doenças Raras Tipo de estudo: Prognostic_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article