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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Bibliografische gegevens
Gepubliceerd in:Mol Genet Metab Rep
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2014
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Research Paper
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121303/
https://ncbi.nlm.nih.gov/pubmed/27896091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.04.006
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