Application of N-Palmitoyl-O-Phosphocholineserine for Diagnosis and Assessment of Response to Treatment in Niemann-Pick Type C disease

Niemann-Pick type C (NPC) disease is a rare lysosomal storage disorder caused by mutations in either the NPC1 or the NPC2 gene. A new class of lipids, N-acyl-O-phosphocholineserines were recently identified as NPC biomarkers. The most abundant species in this class of lipid, N-palmitoyl-O-phosphocho...

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Publicat a:Mol Genet Metab
Autors principals: Sidhu, Rohini, Kell, Pamela, Dietzen, Dennis J., Farhat, Nicole Y., Do, An Ngoc Dang, Porter, Forbes D., Berry-Kravis, Elizabeth, Vite, Charles H., Reunert, Janine, Marquardt, Thorsten, Giugliani, Roberto, Lourenço, Charles M., Bodamer, Olaf, Wang, Raymond Y., Plummer, Ellen, Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian
Format: Artigo
Idioma:Inglês
Publicat: 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7145728/
https://ncbi.nlm.nih.gov/pubmed/32033912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.01.007
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