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Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Manor, Joshua; Calame, Daniel G; Gijavanekar, Charul; Tran, Alyssa; Fatih, Jawid M; Lalani, Seema R; Mizerik, Elizabeth; Parnes, Mered; Mehta, Vidya P; Adesina, Adekunle M; Lupski, James R; Scaglia, Fernando; Elsea, Sarah H.
  • Manor J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Calame DG; Texas Children's Hospital, Houston, TX, USA.
  • Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Tran A; Texas Children's Hospital, Houston, TX, USA.
  • Fatih JM; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Parnes M; Texas Children's Hospital, Houston, TX, USA.
  • Mehta VP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Adesina AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Lupski JR; Texas Children's Hospital, Houston, TX, USA.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Elsea SH; Texas Children's Hospital, Houston, TX, USA.
Brain ; 145(5): e36-e40, 2022 06 03.
Article en En | MEDLINE | ID: mdl-35231119
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Niacina Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Niacina Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article