Article

Citrin Deficiency Mimicking Mitochondrial Depletion Syndrome

2020-08-06

Abstract excerpt

<title>Abstract</title> <p><italic>Background</italic>Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the <italic>SLC25A13</italic> gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane.<italic>Results </italic>We report on two siblings of Romanian-Vietnam...

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Literature Corpus work: 57914344-cc16-564f-be66-d4efa655e789
DOI: 10.21203/rs.3.rs-54164/v1

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