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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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Detalles Bibliográficos
Autores principales:	Welford, Richard W. D., Garzotti, Marco, Marques Lourenço, Charles, Mengel, Eugen, Marquardt, Thorsten, Reunert, Janine, Amraoui, Yasmina, Kolb, Stefan A., Morand, Olivier, Groenen, Peter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4257710/ https://www.ncbi.nlm.nih.gov/pubmed/25479233 http://dx.doi.org/10.1371/journal.pone.0114669

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