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Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.
Au, Lisa Wing Chi; Lee, Hencher Han Chih; Sheng, Bun; Chan, Kwok Yin; Yau, Eric Kin Cheong; Mak, Chloe Miu; Chan, Albert Yan Wo; Chan, Anne Yin Yan; Lau, Claire Ka Yee; Mok, Vincent Chung Tong; Lam, Ching Wan.
Afiliação
  • Au LWC; Margaret K.L. Cheung Research Centre for Management of Parkinsonism, Gerald Choa Neuroscience Centre, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Special Administrative Region. Electronic address: lisaau@cuh
  • Lee HHC; Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.
  • Sheng B; Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative Region.
  • Chan KY; Department of Paediatrics & Adolescent Medicine, Princess Margaret Hospital, Hong Kong Special Administrative Region.
  • Yau EKC; Department of Paediatrics & Adolescent Medicine, Princess Margaret Hospital, Hong Kong Special Administrative Region.
  • Mak CM; Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.
  • Chan AYW; Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.
  • Chan AYY; Margaret K.L. Cheung Research Centre for Management of Parkinsonism, Gerald Choa Neuroscience Centre, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Special Administrative Region.
  • Lau CKY; Margaret K.L. Cheung Research Centre for Management of Parkinsonism, Gerald Choa Neuroscience Centre, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Special Administrative Region.
  • Mok VCT; Margaret K.L. Cheung Research Centre for Management of Parkinsonism, Gerald Choa Neuroscience Centre, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Special Administrative Region.
  • Lam CW; Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong Special Administrative Region.
Clin Neurol Neurosurg ; 199: 106258, 2020 12.
Article em En | MEDLINE | ID: mdl-33031988
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Tiamina Pirofosfoquinase / Transtornos dos Movimentos Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Tiamina Pirofosfoquinase / Transtornos dos Movimentos Idioma: En Ano de publicação: 2020 Tipo de documento: Article