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Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo, Olga; Gal, Andreas; Faria, Rui; Gaspar, Paulo; Miltenberger-Miltenyi, Gabriel; Gago, Miguel F; Dias, Fátima; Martins, Alice; Rodrigues, Jorge; Reimão, Pedro; Pereira, Olga; Simões, Sónia; Lopes, Emilia; Guimarães, Maria José; Sousa, Nuno; Cunha, Damião.
Afiliación
  • Azevedo O; Cardiology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portu
  • Gal A; Labor Dr. Heidrich & Kollegen MVZ GmbH, Hamburg, Germany.
  • Faria R; Communication and Society Research Centre, University of Minho, Braga, Portugal.
  • Gaspar P; Organelle Biogenesis & Function (OBF) Group, Institute of Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação em Saúde (I3S), Porto, Portugal.
  • Miltenberger-Miltenyi G; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal; Genetics Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portuga
  • Gago MF; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal; Neurology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portug
  • Dias F; Transdisciplinary Culture, Space and Memory Research Centre - History of Populations Group, University of Minho, Braga, Portugal.
  • Martins A; Transdisciplinary Culture, Space and Memory Research Centre - History of Populations Group, University of Minho, Braga, Portugal.
  • Rodrigues J; Otorhinolaryngology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
  • Reimão P; Ophthalmology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
  • Pereira O; Dermatology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
  • Simões S; Psychiatry Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
  • Lopes E; Internal Medicine Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
  • Guimarães MJ; Pneumology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
  • Sousa N; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Cunha D; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Mol Genet Metab ; 129(2): 150-160, 2020 02.
Article en En | MEDLINE | ID: mdl-31519519
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Fabry / Alfa-Galactosidasa / Efecto Fundador / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Fabry / Alfa-Galactosidasa / Efecto Fundador / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos