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Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.
Lau, Nike Kwai Cheung; Ng, Selina Ka Wai; Chan, Iris Hiu Shuen; Ng, Kwan Shun; Kwok, Jeffrey Sung Shing.
Afiliação
  • Lau NKC; Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong.
  • Ng SKW; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong.
  • Chan IHS; Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong.
  • Ng KS; Department of Pathology, Kwong Wah Hospital, Hong Kong.
  • Kwok JSS; Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong. Electronic address: kss207@ha.org.hk.
Pathology ; 51(5): 557-561, 2019 Aug.
Article em En | MEDLINE | ID: mdl-31201003
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adenina / Adenina Fosforribosiltransferase / Cálculos da Bexiga Urinária / Urolitíase / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Pathology Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Hong Kong
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adenina / Adenina Fosforribosiltransferase / Cálculos da Bexiga Urinária / Urolitíase / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Pathology Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Hong Kong