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A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.
Ago, Yasuhiko; Sugie, Hideo; Fukuda, Tokiko; Otsuka, Hiroki; Sasai, Hideo; Nakama, Mina; Abdelkreem, Elsayed; Fukao, Toshiyuki.
Afiliação
  • Ago Y; Department of Pediatrics, Graduate School of Medicine Gifu University Gifu Japan.
  • Sugie H; Department of Occupational Therapy Tokoha University Shizuoka Japan.
  • Fukuda T; Department of Pediatrics Hamamatsu University Hamamatsu Japan.
  • Otsuka H; Department of Neonatology Gifu Prefectural General Medical Center Gifu Japan.
  • Sasai H; Department of Pediatrics, Graduate School of Medicine Gifu University Gifu Japan.
  • Nakama M; Division of Clinical Genetics Gifu University Hospital Gifu Japan.
  • Abdelkreem E; Department of Pediatrics, Graduate School of Medicine Gifu University Gifu Japan.
  • Fukao T; Division of Clinical Genetics Gifu University Hospital Gifu Japan.
JIMD Rep ; 48(1): 15-18, 2019 Jul.
Article em En | MEDLINE | ID: mdl-31392108
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article