Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutati...

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Detalles Bibliográficos
Autores principales: Harvengt, Julie, Wanty, Catherine, De Paepe, Boel, Sempoux, Christine, Revencu, Nicole, Smet, Joél, Van Coster, Rudy, Lissens, Willy, Seneca, Sara, Weekers, Laurent, Sokal, Etienne, Debray, François-Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121303/
https://www.ncbi.nlm.nih.gov/pubmed/27896091
http://dx.doi.org/10.1016/j.ymgmr.2014.04.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121303/
https://www.ncbi.nlm.nih.gov/pubmed/27896091
http://dx.doi.org/10.1016/j.ymgmr.2014.04.006

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