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A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
Stiles, Ashlee R; Zhang, Haoyue; Dai, Jian; McCaw, Patricia; Beasley, James; Rehder, Catherine; Koeberl, Dwight D; McDonald, Marie; Bali, Deeksha S; Young, Sarah P.
Afiliação
  • Stiles AR; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA. Electronic address: Ashlee.Stiles@duke.edu.
  • Zhang H; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
  • Dai J; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
  • McCaw P; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
  • Beasley J; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
  • Rehder C; Department of Pathology, Duke University Medical Center, Durham, NC, USA.
  • Koeberl DD; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
  • McDonald M; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Bali DS; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
  • Young SP; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
Mol Genet Metab ; 130(3): 209-214, 2020 07.
Article em En | MEDLINE | ID: mdl-32418857
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Algoritmos / Glicolipídeos / Biomarcadores / Doença de Fabry / Alfa-Galactosidase Limite: Female / Humans / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Algoritmos / Glicolipídeos / Biomarcadores / Doença de Fabry / Alfa-Galactosidase Limite: Female / Humans / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2020 Tipo de documento: Article