Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test-Reference-Cited by-同舟云学术

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Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test

Published:2022-08 Issue:4 Volume:136 Page:330-336
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Chen Hui-An,Hsu Rai-Hseng,Chen Yu-Han,Hsu Li-Wen,Chiang Shu-Chang,Lee Ni-Chung,Hwu Wuh-Liang,Chiu Pao-Chin,Chien Yin-Hsiu

Funder

Ministry of Health and Welfare

Health Promotion Administration, Ministry of Health and Welfare

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat. Genet.,1999

2. Citrin deficiency;Saheki,1993

3. Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: strategy to prevent CTLN2;Okano;Mol. Genet. Metab.,2019

4. Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency;Tamamori;Pediatr. Res.,2004

5. A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency;Ohura;Eur. J. Pediatr.,2003

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency;Molecular Genetics & Genomic Medicine;2024-09

2. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

3. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Thai infants: Case reports on clinical presentation, genotype analysis, and considerations for negative newborn screening;Medical Reports;2024-04

4. Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition;Journal of Inherited Metabolic Disease;2024-03-19

5. Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey;International Journal of Neonatal Screening;2024-03-11

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