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. |
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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.; 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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| ISSN: | 1573-2665 |
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| DOI: | 10.1002/jimd.12673 |
