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Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.

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Title: Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Authors: Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan., Häberle J; University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland., Sugawara K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Tanaka T; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan., Nagao M; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan., Sawada T; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan., Wada Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan., Numakura C; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Murayama K; Department of Metabolism, Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan., Watanabe Y; Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Japan.; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan., Kojima-Ishii K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Kosugiyama K; Department of Pediatrics, Teine Keijinkai Hospital, Sapporo, Japan., Nakamura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 May; Vol. 45 (3), pp. 431-444. Date of Electronic Publication: 2022 Feb 25.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
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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.<br /><searchLink fieldCode="AU" term="%22Häberle+J%22">Häberle J</searchLink>; University Children's Hospital Zurich and Children's Research Centre, 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="%22Tanaka+T%22">Tanaka T</searchLink>; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.<br /><searchLink fieldCode="AU" term="%22Nagao+M%22">Nagao M</searchLink>; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.<br /><searchLink fieldCode="AU" term="%22Sawada+T%22">Sawada T</searchLink>; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Wada+Y%22">Wada Y</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Numakura+C%22">Numakura C</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Murayama+K%22">Murayama K</searchLink>; Department of Metabolism, Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan.<br /><searchLink fieldCode="AU" term="%22Watanabe+Y%22">Watanabe Y</searchLink>; Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Japan.; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.<br /><searchLink fieldCode="AU" term="%22Kojima-Ishii+K%22">Kojima-Ishii K</searchLink>; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Sasai+H%22">Sasai H</searchLink>; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Kosugiyama+K%22">Kosugiyama K</searchLink>; Department of Pediatrics, Teine Keijinkai Hospital, Sapporo, 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="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2022 May; Vol. 45 (3), pp. 431-444. <i>Date of Electronic Publication: </i>2022 Feb 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1002/jimd.12483
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        Text: English
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        StartPage: 431
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              Text: 2022 May
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