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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Detalles Bibliográficos
Autores principales: McGovern, Margaret M., Avetisyan, Ruzan, Sanson, Bernd-Jan, Lidove, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322625/
https://www.ncbi.nlm.nih.gov/pubmed/28228103
http://dx.doi.org/10.1186/s13023-017-0572-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322625/
https://www.ncbi.nlm.nih.gov/pubmed/28228103
http://dx.doi.org/10.1186/s13023-017-0572-x

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