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Fabry disease revisited: Management and treatment recommendations for adult patients.
Ortiz, Alberto; Germain, Dominique P; Desnick, Robert J; Politei, Juan; Mauer, Michael; Burlina, Alessandro; Eng, Christine; Hopkin, Robert J; Laney, Dawn; Linhart, Ales; Waldek, Stephen; Wallace, Eric; Weidemann, Frank; Wilcox, William R.
Afiliação
  • Ortiz A; Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, School of Medicine, UAM, IRSIN and REDINREN, Madrid, Spain. Electronic address: aortiz@fjd.es.
  • Germain DP; French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France.
  • Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Politei J; Department of Neurology, Fundacion Para el Estudio de Enfermedades Neurometabolicas (FESEN), Buenos Aires, Argentina.
  • Mauer M; Departments of Pediatrics and Medicine, University of Minnesota, Minneapolis, MN, USA.
  • Burlina A; Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy.
  • Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Laney D; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
  • Linhart A; 2nd Department of Internal - Cardiovascular Medicine, First Medical Faculty, Charles University, Prague, Czech Republic.
  • Waldek S; School of Pharmacy, University of Sunderland, Sunderland, UK.
  • Wallace E; Department of Medicine, Division of Nephrology, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Weidemann F; Department of Internal Medicine, Katharinen-Hospital Unna, Unna, Germany.
  • Wilcox WR; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Mol Genet Metab ; 123(4): 416-427, 2018 04.
Article em En | MEDLINE | ID: mdl-29530533
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Terapia de Reposição de Enzimas Tipo de estudo: Guideline Limite: Adult / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Terapia de Reposição de Enzimas Tipo de estudo: Guideline Limite: Adult / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article