Citrin deficiency mimicking mitochondrial depletion syndrome

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 PRESENT...

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Detalles Bibliográficos
Autores principales: Grünert, S. C., Schumann, A., Freisinger, P., Rosenbaum-Fabian, S., Schmidts, M., Mueller, A. J., Beck-Wödl, S., Haack, T. B., Schneider, H., Fuchs, H., Teufel, U., Gramer, G., Hannibal, L., Spiekerkoetter, U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659096/
https://www.ncbi.nlm.nih.gov/pubmed/33176737
http://dx.doi.org/10.1186/s12887-020-02409-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659096/
https://www.ncbi.nlm.nih.gov/pubmed/33176737
http://dx.doi.org/10.1186/s12887-020-02409-x

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