Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency-Reference-Cited by-同舟云学术

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency

Published:2019-12-29 Issue:3 Volume:43 Page:467-477
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Lin Yiming¹²,Liu Yaru¹³,Zhu Lin⁴,Le Kaixing¹³,Shen Yuyan⁵,Yang Chiju⁶,Chen Xigui⁶,Hu Haili⁷,Ma Qingqing⁷,Shi Xueqin⁸,Hu Zhenzhen¹,Yang Jianbin¹,Shen Yaping¹,Lin Chien‐Hsing⁹,Huang Chenggang¹⁰,Huang Xinwen¹

Affiliation:

1. Department of Genetics and Metabolism Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health Hangzhou China

2. Neonatal Disease Screening Center Quanzhou Maternity and Children's Hospital Quanzhou China

3. Zhejiang University School of Medicine Hangzhou China

4. Department of Translational Medicine Hangzhou Genuine Clinical Laboratory Co. Ltd Hangzhou China

5. Neonatal Disease Screening Center Huaihua Maternal and Child Health Hospital Huaihua China

6. Neonatal Disease Screening Center Jining Maternal and Child Health Family Service Center Jining China

7. Neonatal Disease Screening Center Hefei Women and Children's Health Care Hospital Hefei China

8. Department of Pediatrics Yancheng Maternity and Child Health Care Hospital Yancheng China

9. Department of Research and Development Feng Chi Biotech Corp Taipei Taiwan

10. Research and Development Center Zhejiang Biosan Biochemical Technologies Co., Ltd Hangzhou China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12206

Reference35 articles.

1. Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

2. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

3. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

4. Citrin deficiency, a perplexing global disorder

5. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

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