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Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington, Charles J; Chapman, Kimberly A; Leon, Eyby; Meltzer, Beatrix W; Berger, Seth I; Olson, Matthew; Figler, Robert A; Hoang, Steve A; Wanxing, Cui; Wamhoff, Brian R; Collado, M Sol; Cusmano-Ozog, Kristina.
Afiliação
  • Billington CJ; Children's National Rare Disease Institute, Washington, District of Columbia, USA.
  • Chapman KA; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Leon E; Children's National Rare Disease Institute, Washington, District of Columbia, USA.
  • Meltzer BW; Children's National Rare Disease Institute, Washington, District of Columbia, USA.
  • Berger SI; Laboratory Medicine, Children's National Hospital, Washington, District of Columbia, USA.
  • Olson M; Children's National Rare Disease Institute, Washington, District of Columbia, USA.
  • Figler RA; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
  • Hoang SA; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
  • Wanxing C; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
  • Wamhoff BR; Georgetown University Hospital, Washington, District of Columbia, USA.
  • Collado MS; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
  • Cusmano-Ozog K; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
Am J Med Genet A ; 188(9): 2738-2749, 2022 09.
Article em En | MEDLINE | ID: mdl-35799415
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença da Urina de Xarope de Bordo Limite: Humans / Newborn País como assunto: America central Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença da Urina de Xarope de Bordo Limite: Humans / Newborn País como assunto: America central Idioma: En Ano de publicação: 2022 Tipo de documento: Article