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Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Shen, Jin-Song; Arning, Erland; West, Michael L; Day, Taniqua S; Chen, Shuyuan; Meng, Xing-Li; Forni, Sabrina; McNeill, Nathan; Goker-Alpan, Ozlem; Wang, Xuan; Ashcraft, Paula; Moore, David F; Cheng, Seng H; Schiffmann, Raphael; Bottiglieri, Teodoro.
Afiliação
  • Shen JS; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
  • Arning E; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
  • West ML; Division of Nephrology, Department of Medicine, Dalhousie University, Halifax, NS, Canada.
  • Day TS; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
  • Chen S; Baylor Research Institute, Dallas, TX, USA.
  • Meng XL; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
  • Forni S; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
  • McNeill N; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
  • Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA, USA.
  • Wang X; Baylor Research Institute, Dallas, TX, USA.
  • Ashcraft P; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
  • Moore DF; Sanford Health and University of North Dakota, Fargo, ND, USA.
  • Cheng SH; Sanofi Genzyme, Framingham, MA, USA.
  • Schiffmann R; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
  • Bottiglieri T; Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.
Hum Mol Genet ; 26(6): 1182-1192, 2017 03 15.
Article em En | MEDLINE | ID: mdl-28158561

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Biopterinas / Doença de Fabry / Alfa-Galactosidase / Terapia de Reposição de Enzimas Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Biopterinas / Doença de Fabry / Alfa-Galactosidase / Terapia de Reposição de Enzimas Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article