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This bibliography contains links to literature and PubMed abstracts on topics related to ASMD, including diagnostic guidelines, disease manifestations, morbidity and mortality, and literature reviews.

These publications were chosen by Sanofi Genzyme Medical Affairs personnel. Additional resources on these topics are available and should be investigated.


Cassiman, et al. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Mol Genet Metab. 2016 Jul;118(3):206-13.
PMID: 27198631


McGovern, et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
Genet Med. 2017 Sep;19(9):967-974.
PMID: 28406489


McGovern, et al. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).
Orphanet J Rare Dis. 2017 Feb 23;12(1):41.
PMID: 28228103


McGovern, et al. Morbidity and mortality in type B Niemann-Pick disease.
Genet Med. 2013 Aug;15(8):618-23.
PMID: 23412609


 

 

 

 

 

 

Last Updated: Feb 5, 2021
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