SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference38 articles.
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2. Citrin deficiency, a perplexing global disorder;Dimmock;Mol. Genet. Metab.,2009
3. Simple and rapid quantitative high-performance liquid chromatographic analysis of plasma amino acids;Frank;J. Chromatogr. B Anal. Technol. Biomed. Life Sci.,2007
4. Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency;Fukushima;Intern. Med.,2010
5. Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency;Hayasaka;JIMD Rep.,2012
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1. Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition;Journal of Inherited Metabolic Disease;2024-03-19
2. Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan‐Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition;Journal of Pediatric Gastroenterology and Nutrition;2023-12-10
3. A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant;Gene;2023-07
4. Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency;Frontiers in Pediatrics;2023-03-29
5. Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13;Journal of Pediatric Endocrinology and Metabolism;2019-12-06
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