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. |
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| 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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| ISSN: | 1573-2665 |
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| DOI: | 10.1002/jimd.12483 |
