https://rarediseases.info.nih.gov/diseases/20661/citrin-deficiency
Citrin deficiency | About the Disease | GARD
Find symptoms and other information about Citrin deficiency.
about the diseasecitrin deficiencygard
https://ifp.nyu.edu/2020/open-access-journal-articles/s12887-020-02349-6/
Hypoketotic hypoglycemia in citrin deficiency: a case report - information for practice
Sep 24, 2020 - Citrin deficiency (CD) is a recessive metabolic disease caused by biallelic pathogenic variants in SLC25A13. Although previous studies have reported
citrin deficiencya casereport informationhypoglycemia
https://pubmed.ncbi.nlm.nih.gov/21424115/
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric...
Citrin is a liver-type aspartate/glutamate carrier (AGC) encoded by the gene SLC25A13. Two phenotypes for human citrin deficiency have been described, namely...