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The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

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Title: The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.
Authors: Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan; University Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland. Electronic address: kidojun@kuh.kumamoto-u.ac.jp., Häberle J; University Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland., Sugawara K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Yazaki M; Department of Neuro-Health Innovation, Institute for Biomedical Sciences, Shinshu University, Matsumoto 390-8621, Nagano, Japan., Inui A; Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu Hospital, Yokohama, Japan., Numakura C; Department of Clinical Genomics and Pediatrics, Saitama Medical University, 38 Moro-Hongo, Moroyama-machi, Iruma-gun, Saitama 350-0495, Japan., Shimura M; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Ishido K; Department of Gastroenterological Surgery, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan., Kuranobu N; Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Yonago, Japan., Hashimoto K; Department of Clinical Investigation, Kumamoto University Hospital, Kumamoto, Japan., Nakamura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Sep-Oct; Vol. 146 (1-2), pp. 109221. Date of Electronic Publication: 2025 Aug 14.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
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  Data: The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.
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  Data: <searchLink fieldCode="AU" term="%22Kido+J%22">Kido J</searchLink>; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan; University Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland. Electronic address: kidojun@kuh.kumamoto-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Häberle+J%22">Häberle J</searchLink>; University Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Sugawara+K%22">Sugawara K</searchLink>; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Yazaki+M%22">Yazaki M</searchLink>; Department of Neuro-Health Innovation, Institute for Biomedical Sciences, Shinshu University, Matsumoto 390-8621, Nagano, Japan.<br /><searchLink fieldCode="AU" term="%22Inui+A%22">Inui A</searchLink>; Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Numakura+C%22">Numakura C</searchLink>; Department of Clinical Genomics and Pediatrics, Saitama Medical University, 38 Moro-Hongo, Moroyama-machi, Iruma-gun, Saitama 350-0495, Japan.<br /><searchLink fieldCode="AU" term="%22Shimura+M%22">Shimura M</searchLink>; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.<br /><searchLink fieldCode="AU" term="%22Ishido+K%22">Ishido K</searchLink>; Department of Gastroenterological Surgery, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan.<br /><searchLink fieldCode="AU" term="%22Kuranobu+N%22">Kuranobu N</searchLink>; Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Yonago, Japan.<br /><searchLink fieldCode="AU" term="%22Hashimoto+K%22">Hashimoto K</searchLink>; Department of Clinical Investigation, Kumamoto University Hospital, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Nakamura+K%22">Nakamura K</searchLink>; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
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  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2025 Sep-Oct; Vol. 146 (1-2), pp. 109221. <i>Date of Electronic Publication: </i>2025 Aug 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
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              Text: 2025 Sep-Oct
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