A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

BACKGROUND: Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births, though recent neonatal screening suggests a...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Giese, Anne-Katrin, Mascher, Hermann, Grittner, Ulrike, Eichler, Sabrina, Kramp, Guido, Lukas, Jan, te Vruchte, Danielle, Al Eisa, Nada, Cortina-Borja, Mario, Porter, Forbes D, Platt, Frances M, Rolfs, Arndt
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4479076/
https://ncbi.nlm.nih.gov/pubmed/26082315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0274-1
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