Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance
Author:
Publisher
Spandidos Publications
Subject
Genetics,General Medicine
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. Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition;Journal of Inherited Metabolic Disease;2024-03-19
2. Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency;Clinica Chimica Acta;2024-01
3. The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders;npj Genomic Medicine;2021-06-02
4. The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases;Genes;2021-02-20
5. Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases;Frontiers in Genetics;2019-11-07
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