Your browser doesn't support javascript.
loading
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira, João P; Nowak, Albina; Barbey, Frédéric; Torres, Márcia; Nunes, José P; Teixeira-E-Costa, Fernando; Carvalho, Fernanda; Sampaio, Susana; Tavares, Isabel; Pereira, Odete; Soares, Ana L; Carmona, Cátia; Cardoso, Maria-Teresa; Jurca-Simina, Iulia E; Spada, Marco; Ferreira, Susana; Germain, Dominique P.
Afiliação
  • Oliveira JP; Service of Medical Genetics, São João University Hospital Center, 4200-319, Porto, Portugal; Unit of Genetics, Department of Pathology, Faculty of Medicine, University of Porto, 4200-319, Porto, Portugal; Institute for Research and Innovation in Health [Instituto de Investigação e Inovação em Saúde]
  • Nowak A; Department of Endocrinology and Clinical Nutrition, University of Zurich, 8091, Zürich, Switzerland.
  • Barbey F; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.
  • Torres M; Service of Cardiology, Hospital of Santo Tirso, 4780-371, Santo Tirso, Portugal.
  • Nunes JP; Service of Cardiology, São João University Hospital Center, 4200-319, Porto, Portugal.
  • Teixeira-E-Costa F; Service of Nephrology, Garcia de Orta Hospital, 2805-267, Almada, Portugal.
  • Carvalho F; Unit of Renal Pathology, Service of Nephrology, Curry Cabral Hospital, 1069-166, Lisbon, Portugal.
  • Sampaio S; Service of Nephrology, São João University Hospital Center, 4200-319, Porto, Portugal.
  • Tavares I; Service of Nephrology, São João University Hospital Center, 4200-319, Porto, Portugal; Uninefro, Santo Tirso Hemodialysis Clinic, 4780-383, Santo Tirso, Portugal.
  • Pereira O; Service of Nephrology, São João University Hospital Center, 4200-319, Porto, Portugal.
  • Soares AL; Vil'Alva Family Health Center, 4780-484, Santo Tirso, Portugal.
  • Carmona C; Service of Neurology, Garcia de Orta Hospital, 2805-267, Almada, Portugal.
  • Cardoso MT; Clinic for Adult Metabolic Diseases, Inherited Metabolic Diseases Reference Center, São João University Hospital Center, 4200-319, Porto, Portugal.
  • Jurca-Simina IE; Division of Medical Genetics, University of Versailles / Paris-Saclay University, 78180, Montigny, France.
  • Spada M; Clinic for Metabolic Diseases, Department of Pediatric Sciences, Regina Margherita Hospital, 10126, Turin, Italy.
  • Ferreira S; Unit of Genetics, Department of Pathology, Faculty of Medicine, University of Porto, 4200-319, Porto, Portugal; Institute for Research and Innovation in Health [Instituto de Investigação e Inovação em Saúde] - I3S, University of Porto, 4150-180, Porto, Portugal.
  • Germain DP; Division of Medical Genetics, University of Versailles / Paris-Saclay University, 78180, Montigny, France.
Eur J Med Genet ; 63(2): 103703, 2020 Feb.
Article em En | MEDLINE | ID: mdl-31200018
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Holanda