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Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
Masunaga, Yohei; Nishimura, Gen; Takahashi, Koji; Hishiyama, Tomiyuki; Imamura, Masatoshi; Kashimada, Kenichi; Kadoya, Machiko; Wada, Yoshinao; Okamoto, Nobuhiko; Oba, Daiju; Ohashi, Hirofumi; Ikeno, Mitsuru; Sakamoto, Yuko; Fukami, Maki; Saitsu, Hirotomo; Ogata, Tsutomu.
Afiliação
  • Masunaga Y; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nishimura G; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
  • Takahashi K; Department of Pediatrics, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
  • Hishiyama T; Department of Neonatology, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
  • Imamura M; Department of Neonatology, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
  • Kashimada K; Department of Pediatrics, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
  • Kadoya M; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
  • Wada Y; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Okamoto N; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Oba D; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Ikeno M; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Sakamoto Y; Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan.
  • Fukami M; Department of Orthopedics, Juntendo University Nerima Hospital, Tokyo, Japan.
  • Saitsu H; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Sci Rep ; 12(1): 17079, 2022 10 12.
Article em En | MEDLINE | ID: mdl-36224347
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Ácido N-Acetilneuramínico Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Newborn País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Ácido N-Acetilneuramínico Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Newborn País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article