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Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastat...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5322625/ https://ncbi.nlm.nih.gov/pubmed/28228103 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0572-x |
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