Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States
Authors
Keywords
Niemann-Pick disease type C, NPC, Prevalence, Epidemiology, Lysosomal storage disease
Journal
MOLECULAR GENETICS AND METABOLISM
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2021-07-01
DOI
10.1016/j.ymgme.2021.06.011
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale
- (2021) Marc C. Patterson et al. Orphanet Journal of Rare Diseases
- Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
- (2020) Marc C. Patterson et al. Orphanet Journal of Rare Diseases
- Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease
- (2020) Deborah Moreira Rangel et al. CEREBELLUM
- Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
- (2020) Berna Seker Yilmaz et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history
- (2019) Simona E. Bianconi et al. MOLECULAR GENETICS AND METABOLISM
- Consensus clinical management guidelines for Niemann-Pick disease type C
- (2018) Tarekegn Geberhiwot et al. Orphanet Journal of Rare Diseases
- Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages
- (2017) Eugen Mengel et al. MOLECULAR GENETICS AND METABOLISM
- A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
- (2016) Mercedes Pineda et al. BMC Pediatrics
- Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database
- (2015) Jackie Imrie et al. BMC Neurology
- High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
- (2015) Christopher A. Wassif et al. GENETICS IN MEDICINE
- Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
- (2012) Marc C. Patterson et al. MOLECULAR GENETICS AND METABOLISM
- Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C
- (2012) F. A. Wijburg et al. NEUROLOGY
- Niemann-Pick disease type C
- (2010) Marie T Vanier Orphanet Journal of Rare Diseases
- Recommendations on the diagnosis and management of Niemann-Pick disease type C
- (2009) James E. Wraith et al. MOLECULAR GENETICS AND METABOLISM
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now