טוען...
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...
שמור ב:
| הוצא לאור ב: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2015
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| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
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