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Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido, Jun; Häberle, Johannes; Sugawara, Keishin; Tanaka, Toju; Nagao, Masayoshi; Sawada, Takaaki; Wada, Yoichi; Numakura, Chikahiko; Murayama, Kei; Watanabe, Yoriko; Kojima-Ishii, Kanako; Sasai, Hideo; Kosugiyama, Kiyotaka; Nakamura, Kimitoshi.
Afiliação
  • Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
  • Häberle J; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
  • Sugawara K; University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland.
  • Tanaka T; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
  • Nagao M; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
  • Sawada T; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
  • Wada Y; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
  • Numakura C; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
  • Murayama K; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Watanabe Y; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
  • Kojima-Ishii K; Department of Metabolism, Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan.
  • Sasai H; Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Japan.
  • Kosugiyama K; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Nakamura K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
J Inherit Metab Dis ; 45(3): 431-444, 2022 05.
Article em En | MEDLINE | ID: mdl-35142380
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Citrulinemia / Transportadores de Ânions Orgânicos / Dislipidemias Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adolescent / Adult / Humans / 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: Colestase Intra-Hepática / Citrulinemia / Transportadores de Ânions Orgânicos / Dislipidemias Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adolescent / Adult / Humans / Newborn País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article