Article
Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Jan 2020
Köse Melis Demir, Kagnici Mehtap, Özdemir Taha Reşit, Erdur Cahit Barış, Erdemir Gülin, Karakoyun Miray, Guzin Yiğit, Ceylaner Serdar, Genel Ferah
Abstract excerpt
Background Citrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today. Case presentation We reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin...
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