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Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

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Title: Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
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, Zurich, Switzerland., Häberle J; University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland., 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., Wada Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan., Numakura C; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Bo R; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Nyuzuki H; Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Dateki S; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Maruyama S; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Murayama K; Department of Metabolism, Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan., Yoshida S; Newborn Screening Center, KM Biologics Co., Ltd, Kumamoto, 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] 2024 Nov; Vol. 47 (6), pp. 1134-1143. Date of Electronic Publication: 2023 Sep 12.
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: Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
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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, Zurich, Switzerland.<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="%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="%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="%22Bo+R%22">Bo R</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Nyuzuki+H%22">Nyuzuki H</searchLink>; Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Dateki+S%22">Dateki S</searchLink>; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 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="%22Murayama+K%22">Murayama K</searchLink>; Department of Metabolism, Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan.<br /><searchLink fieldCode="AU" term="%22Yoshida+S%22">Yoshida S</searchLink>; Newborn Screening Center, KM Biologics Co., Ltd, 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="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1134-1143. <i>Date of Electronic Publication: </i>2023 Sep 12.
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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.12673
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              Text: 2024 Nov
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