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Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Masunaga, Yohei; Mochizuki, Mie; Kadoya, Machiko; Wada, Yoshinao; Okamoto, Nobuhiko; Fukami, Maki; Kato, Fumiko; Saitsu, Hirotomo; Ogata, Tsutomu.
Afiliación
  • Masunaga Y; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Mochizuki M; Department of Pediatrics, University of Yamanashi, Faculty of Medicine, Chuou 409-3898, Japan.
  • Kadoya M; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
  • Wada Y; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
  • Okamoto N; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
  • Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
  • Kato F; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
Endocr J ; 68(5): 605-611, 2021 May 28.
Article en En | MEDLINE | ID: mdl-33583911

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria / Fosfotransferasas (Fosfomutasas) / Trastornos Congénitos de Glicosilación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Endocr J Asunto de la revista: ENDOCRINOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria / Fosfotransferasas (Fosfomutasas) / Trastornos Congénitos de Glicosilación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Endocr J Asunto de la revista: ENDOCRINOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Japón