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Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

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Title: Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Authors: Mikami-Saito Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Wada Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan. Electronic address: wada@med.tohoku.ac.jp., Arai-Ichinoi N; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan., Nakajima Y; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan., Suzuki-Ajihara S; Department of Pediatrics and Clinical Genomics, Saitama Medical University, Saitama, Japan., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Tanaka T; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan., Numakura C; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Hamazaki T; Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan., Igarashi N; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan., Esaki H; Department of Pediatrics, Sasebo City General Hospital, Sasebo, Japan., Kagawa R; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan., Kono T; Division of Endocrinology and Metabolism, Saitama Children's Medical Center, Saitama, Japan., Sawada T; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Sawada T; Department of Pediatrics, Izumi City General Hospital, Osaka, Japan., Nyuzuki H; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Hirai H; Department of Pediatrics, Shikoku Central Hospital of the Mutual Aid Association of Public School Teachers, Shikokuchuo, Japan., Fumoto S; Department of Pediatrics, Kyorin University School of Medicine, Mitaka, Japan., Matsuda J; Department of Pathophysiology and Metabolism, Kawasaki Medical School, Kurashiki, Japan., Matsunaga A; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan., Maruyama S; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Yamaguchi K; Department of Pediatrics, National Hospital Organization Kokura Medical Center, Kitakyushu, Japan., Yoshino M; Department of Pediatrics, Kyushu Hospital, Japan Community Healthcare Organization, Kitakyushu, Japan., Totsune E; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Ohura T; Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan., Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Aug; Vol. 26 (8), pp. 101165. Date of Electronic Publication: 2024 May 16.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Mikami-Saito+Y%22">Mikami-Saito Y</searchLink>; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Wada+Y%22">Wada Y</searchLink>; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan. Electronic address: wada@med.tohoku.ac.jp.<br /><searchLink fieldCode="AU" term="%22Arai-Ichinoi+N%22">Arai-Ichinoi N</searchLink>; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Nakajima+Y%22">Nakajima Y</searchLink>; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.<br /><searchLink fieldCode="AU" term="%22Suzuki-Ajihara+S%22">Suzuki-Ajihara S</searchLink>; Department of Pediatrics and Clinical Genomics, Saitama Medical University, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Murayama+K%22">Murayama K</searchLink>; Department of Metabolism, Chiba Children's Hospital, Chiba, 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="%22Numakura+C%22">Numakura C</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Hamazaki+T%22">Hamazaki T</searchLink>; Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Igarashi+N%22">Igarashi N</searchLink>; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.<br /><searchLink fieldCode="AU" term="%22Esaki+H%22">Esaki H</searchLink>; Department of Pediatrics, Sasebo City General Hospital, Sasebo, Japan.<br /><searchLink fieldCode="AU" term="%22Kagawa+R%22">Kagawa R</searchLink>; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Kono+T%22">Kono T</searchLink>; Division of Endocrinology and Metabolism, Saitama Children's Medical Center, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Sawada+T%22">Sawada T</searchLink>; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Sawada+T%22">Sawada T</searchLink>; Department of Pediatrics, Izumi City General Hospital, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Nyuzuki+H%22">Nyuzuki H</searchLink>; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Hirai+H%22">Hirai H</searchLink>; Department of Pediatrics, Shikoku Central Hospital of the Mutual Aid Association of Public School Teachers, Shikokuchuo, Japan.<br /><searchLink fieldCode="AU" term="%22Fumoto+S%22">Fumoto S</searchLink>; Department of Pediatrics, Kyorin University School of Medicine, Mitaka, Japan.<br /><searchLink fieldCode="AU" term="%22Matsuda+J%22">Matsuda J</searchLink>; Department of Pathophysiology and Metabolism, Kawasaki Medical School, Kurashiki, Japan.<br /><searchLink fieldCode="AU" term="%22Matsunaga+A%22">Matsunaga A</searchLink>; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Maruyama+S%22">Maruyama S</searchLink>; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Yamaguchi+K%22">Yamaguchi K</searchLink>; Department of Pediatrics, National Hospital Organization Kokura Medical Center, Kitakyushu, Japan.<br /><searchLink fieldCode="AU" term="%22Yoshino+M%22">Yoshino M</searchLink>; Department of Pediatrics, Kyushu Hospital, Japan Community Healthcare Organization, Kitakyushu, Japan.<br /><searchLink fieldCode="AU" term="%22Totsune+E%22">Totsune E</searchLink>; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Kikuchi+A%22">Kikuchi A</searchLink>; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Ohura+T%22">Ohura T</searchLink>; Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Kure+S%22">Kure S</searchLink>; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2024 Aug; Vol. 26 (8), pp. 101165. <i>Date of Electronic Publication: </i>2024 May 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
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