Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes. Little is known about how ASMD symptoms affect the lives of patients and their caregivers....

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Detalles Bibliográficos
Autores principales: Pokrzywinski, Robin, Hareendran, Asha, Nalysnyk, Luba, Cowie, Sandy, Crowe, Joslyn, Hopkin, Justin, Joshi, Dhaivat, Pulikottil-Jacob, Ruth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8546120/
https://www.ncbi.nlm.nih.gov/pubmed/34697402
http://dx.doi.org/10.1038/s41598-021-99921-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8546120/
https://www.ncbi.nlm.nih.gov/pubmed/34697402
http://dx.doi.org/10.1038/s41598-021-99921-6

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