In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13-Reference-Cited by-同舟云学术

In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13

Published:2021-12 Issue:7 Volume:53 Page:867-874
ISSN:0031-3025
Container-title:Pathology
language:en
Short-container-title:Pathology

Author:

Lau Nike Kwai Cheung^ORCID,Lee Hencher Han Chih^ORCID,Chen Sammy Pak Lam,Ng Candy Wai Yan,Mak Chloe Miu,Chong Yeow Kuan,Tong Tammy Tsz Yan^ORCID,Leung Mei Tik^ORCID,Shek Chi Chung^ORCID,Yuen Yuet Ping,Ching Chor Kwan

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference31 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;Tabata;J Hum Genet,2008

2. Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations;Kobayashi;Mol Genet Metab,2003

3. A rare case of neonatal intrahepatic cholestasis caused by citrin deficiency in the United States;De Michele;AJSP Rev Rep,2018

4. A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study;Fiermonte;Mol Genet Metab,2011

5. Citrin deficiency: a treatable cause of acute psychosis in adults;Bijarnia-Mahay;Neurol India,2015

Cited by 3 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. Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency;Frontiers in Pediatrics;2023-03-29

2. The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis;Journal of Human Genetics;2023-01-04

3. Obstacles to home-based dietary management for caregivers of children with citrin deficiency: a qualitative study;Orphanet Journal of Rare Diseases;2022-07-08