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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479076/ https://www.ncbi.nlm.nih.gov/pubmed/26082315 http://dx.doi.org/10.1186/s13023-015-0274-1 |