Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

Niemann-Pick disease type C (NP-C) is a devastating, neurovisceral lysosomal storage disorder which is characterised by variable manifestation of visceral signs, progressive neuropsychiatric deterioration and premature death, caused by mutations in the NPC1 and NPC2 genes. Due to the complexity of d...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Welford, Richard W. D., Garzotti, Marco, Marques Lourenço, Charles, Mengel, Eugen, Marquardt, Thorsten, Reunert, Janine, Amraoui, Yasmina, Kolb, Stefan A., Morand, Olivier, Groenen, Peter
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2014
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4257710/
https://ncbi.nlm.nih.gov/pubmed/25479233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0114669
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