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NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Manor, Joshua; Calame, Daniel; Gijavanekar, Charul; Fisher, Kristen; Hunter, Jill; Mizerik, Elizabeth; Bacino, Carlos; Scaglia, Fernando; Elsea, Sarah H.
Afiliación
  • Manor J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Metabolic Diseases Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Israel. Electronic address: joshmanor@gmail.com.
  • Calame D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Fisher K; Texas Children's Hospital, Houston, TX, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Hunter J; Texas Children's Hospital, Houston, TX, USA; Department of Radiology, Texas Children's Hospital, Houston, TX, USA.
  • Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
  • Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Sha Tin, Hong Kong.
  • Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Mol Genet Metab ; 136(2): 101-110, 2022 06.
Article en En | MEDLINE | ID: mdl-35637064
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Racemasas y Epimerasas / Enfermedades Metabólicas / NAD / NADP Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2022 Tipo del documento: Article
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Racemasas y Epimerasas / Enfermedades Metabólicas / NAD / NADP Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2022 Tipo del documento: Article