Citrin deficiency mimicking mitochondrial depletion syndrome

• Główni autorzy: S. C. Grünert (Autor), A. Schumann (Autor), P. Freisinger (Autor), S. Rosenbaum-Fabian (Autor), M. Schmidts (Autor), A. J. Mueller (Autor), S. Beck-Wödl (Autor), T. B. Haack (Autor), H. Schneider (Autor), H. Fuchs (Autor), U. Teufel (Autor), G. Gramer (Autor), L. Hannibal (Autor), U. Spiekerkoetter (Autor)
• Format: Książka
• Wydane: BMC, 2020-11-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane. Case...