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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發表在:Mol Genet Metab Rep
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Elsevier 2014
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Research Paper
在線閱讀: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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