Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study
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Title
Long‐term survival outcomes of patients with
Niemann‐Pick
disease type C receiving miglustat treatment: A large retrospective observational study
Authors
Keywords
-
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2020-04-23
DOI
10.1002/jimd.12245
References
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Related references
Note: Only part of the references are listed.- 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
- Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
- (2018) Yann Nadjar et al. Orphanet Journal of Rare Diseases
- 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
- Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
- (2015) Marc C Patterson et al. Orphanet Journal of Rare Diseases
- Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
- (2014) Helena Jahnova et al. Orphanet Journal of Rare Diseases
- Disease and patient characteristics in NP-C patients: findings from an international disease registry
- (2013) Marc C Patterson et al. Orphanet Journal of Rare Diseases
- Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
- (2012) Y. H. Chien et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
- (2012) Marc C. Patterson et al. MOLECULAR GENETICS AND METABOLISM
- Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
- (2012) Bénédicte Héron et al. Orphanet Journal of Rare Diseases
- Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
- (2012) Mark Walterfang et al. Orphanet Journal of Rare Diseases
- The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
- (2011) Simona Fecarotta et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
- (2009) J.E. Wraith et al. MOLECULAR GENETICS AND METABOLISM
- Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series
- (2009) M. Pineda et al. MOLECULAR GENETICS AND METABOLISM
- 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy
- (2008) Damien Galanaud et al. MOLECULAR GENETICS AND METABOLISM
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