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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
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  Data: Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
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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. Electronic address: kidojun@kuh.kumamoto-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Nakashima+H%22">Nakashima H</searchLink>; School of Medicine, Kumamoto University, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Häberle+J%22">Häberle J</searchLink>; University Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Nozaki+F%22">Nozaki F</searchLink>; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Yano+N%22">Yano N</searchLink>; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Sugawara+K%22">Sugawara K</searchLink>; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Hasegawa+M%22">Hasegawa M</searchLink>; Department of Pediatrics, Yamaguchi Prefectural Grand Medical Center, Yamaguchi, Japan.<br /><searchLink fieldCode="AU" term="%22Wada+Y%22">Wada Y</searchLink>; Tohoku University SiRIUS Institute of Medical Research, Miyagi, Japan.<br /><searchLink fieldCode="AU" term="%22Numakura+C%22">Numakura C</searchLink>; Department of Genomic Medicine, Department of Pediatrics, Saitama Medical University, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Shimura+M%22">Shimura M</searchLink>; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.<br /><searchLink fieldCode="AU" term="%22Sasai+H%22">Sasai H</searchLink>; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Kaji+S%22">Kaji S</searchLink>; Department of Pediatrics, Tsuyama Central Hospital, Okayama, Japan.<br /><searchLink fieldCode="AU" term="%22Mushimoto+Y%22">Mushimoto Y</searchLink>; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Anan+K%22">Anan K</searchLink>; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan; Department of Comprehensive Medical Education, Faculty of Life Sciences, Kumamoto University, 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="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109912. <i>Date of Electronic Publication: </i>2026 Mar 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
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              Text: 2026 Jun
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