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Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~...
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| Pubblicato in: | BMC Med Genet |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5240394/ https://ncbi.nlm.nih.gov/pubmed/28095804 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0367-x |
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