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Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.
Shashi, Vandana; Petrovski, Slavé; Schoch, Kelly; Crimian, Rebecca; Case, Laura E; Khalid, Roha; El-Dairi, Maysantoine A; Jiang, Yong-Hui; Mikati, Mohamad A; Goldstein, David B.
Afiliación
  • Shashi V; Department of Pediatrics, Division of Medical Genetics Duke University School of Medicine, Durham, North Carolina 27710, USA;
  • Petrovski S; Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;; Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, 3050 Victoria, Australia;
  • Schoch K; Department of Pediatrics, Division of Medical Genetics Duke University School of Medicine, Durham, North Carolina 27710, USA;
  • Crimian R; Department of Pediatrics, Division of Medical Genetics Duke University School of Medicine, Durham, North Carolina 27710, USA;
  • Case LE; Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA;
  • Khalid R; Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
  • El-Dairi MA; Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
  • Jiang YH; Department of Pediatrics, Division of Medical Genetics Duke University School of Medicine, Durham, North Carolina 27710, USA;; Department of Neurobiology, Duke University, Durham, North Carolina 27710, USA.
  • Mikati MA; Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
  • Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;
Cold Spring Harb Mol Case Stud ; 1(1): a000265, 2015 Oct.
Article en En | MEDLINE | ID: mdl-27148562
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2015 Tipo del documento: Article