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Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

Acid sphingomyelinase-deficient Niemann-Pick disease (ASMD) includes the severe neuronopathic type A, the non-neuronopathic type B, and rare intermediate cases. Here we report on such an atypical type B patient who died at 31 years of age from liver failure. This male subject was first seen in a pae...

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Bibliographische Detailangaben
Veröffentlicht in:JIMD Rep
Hauptverfasser: Lidove, Olivier, Sedel, Frédéric, Charlotte, Frédéric, Froissart, Roseline, Vanier, Marie T.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2014
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4270874/
https://ncbi.nlm.nih.gov/pubmed/24718843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_306
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