NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Zhou, Ji; Li, Jiuwei; Stenton, Sarah L; Ren, Xiaotun; Gong, Shuai; Fang, Fang; Prokisch, Holger

Zhou, Ji; Li, Jiuwei; Stenton, Sarah L; Ren, Xiaotun; Gong, Shuai; Fang, Fang; Prokisch, Holger.

Afiliação

Zhou J; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Li J; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Stenton SL; Institute of Human Genetics, Technische Universität München, München, Germany.
Ren X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Gong S; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Prokisch H; Institute of Human Genetics, Technische Universität München, München, Germany.

Brain ; 143(2): e8, 2020 02 01.

Article em En | MEDLINE | ID: mdl-31755961

Assuntos

NAD; Doenças Neurodegenerativas; Humanos; Hidroliases

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / NAD Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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