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McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant.
Lau, Nike Kwai Cheung; Chong, Yeow Kuan; Cheung, Kelvin Pak Kin; Loo, Ka Tai; Ching, Chor Kwan.
Afiliación
  • Lau NKC; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Chong YK; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Cheung KPK; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong.
  • Loo KT; Department of Pathology, Tuen Mun Hospital, Hong Kong.
  • Ching CK; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong. Electronic address: chingck2@ha.org.hk.
Pathology ; 53(5): 670-673, 2021 08.
Article en En | MEDLINE | ID: mdl-33309034
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo V / Empalme del ARN / Hígado Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Pathology Año: 2021 Tipo del documento: Article País de afiliación: Hong Kong
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo V / Empalme del ARN / Hígado Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Pathology Año: 2021 Tipo del documento: Article País de afiliación: Hong Kong