Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States

Author:

Burton Barbara K.,Ellis Alexandra G.,Orr Blair,Chatlani Shilpa,Yoon Kwangchae,Shoaff Jessica R.,Gallo Dan

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference24 articles.

1. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C;Yanjanin;Am. J. Med. Genet. B Neuropsychiatr. Genet.,2010

2. Niemann-Pick disease type C;Vanier;Orphan. J. Rare Diseas.,2010

3. Consensus clinical management guidelines for Niemann-Pick disease type C;Geberhiwot;Orphan. J. Rare Diseas.,2018

4. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets;Wassif;Genet. Med.,2016

5. Evaluation of age of death in Niemann-Pick disease, type C: utility of disease support group websites to understand natural history;Bianconi;Mol. Genet. Metab.,2019

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