Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

Introduction: Niemann-Pick type C disease is a rare disorder caused by impaired intracellular lipid transport due to mutations in either the NPC1 or the NPC2 gene. Ninety-five % of NPC patients show mutations in the NPC1 gene. A much smaller number of patients suffer from NPC2 disease and present re...

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Udgivet i:JIMD Rep
Main Authors: Reunert, J., Lotz-Havla, A. S., Polo, G., Kannenberg, F., Fobker, M., Griese, M., Mengel, E., Muntau, A. C., Schnabel, P., Sommerburg, O., Borggraefe, I., Dardis, A., Burlina, A. P., Mall, M. A., Ciana, G., Bembi, B., Burlina, A. B., Marquardt, T.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4484906/
https://ncbi.nlm.nih.gov/pubmed/25772320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_423
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