Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

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Title: Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
Authors: Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan. Electronic address: kidojun@kuh.kumamoto-u.ac.jp., Nakashima H; School of Medicine, Kumamoto University, Kumamoto, Japan., Häberle J; University Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland., Nozaki F; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Yano N; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Sugawara K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Hasegawa M; Department of Pediatrics, Yamaguchi Prefectural Grand Medical Center, Yamaguchi, Japan., Wada Y; Tohoku University SiRIUS Institute of Medical Research, Miyagi, Japan., Numakura C; Department of Genomic Medicine, Department of Pediatrics, Saitama Medical University, Saitama, Japan., Shimura M; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Kaji S; Department of Pediatrics, Tsuyama Central Hospital, Okayama, Japan., Mushimoto Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Anan K; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan; Department of Comprehensive Medical Education, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Nakamura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109912. Date of Electronic Publication: 2026 Mar 27.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2026.109912