Abstract | PURPOSE: METHODS: A total of 103 patients with Niemann-Pick disease (49 males, 54 females, age range: 1-72 years) participated in natural history studies through Mount Sinai's International Center for Types A and B Niemann-Pick Disease between 1992 and 2012. RESULTS: CONCLUSION: This study demonstrates that Niemann-Pick disease is a life-threatening disorder with significant morbidity and mortality, especially in the pediatric population. The information collected in this series highlights the need for safe, effective therapy for Niemann-Pick disease.
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Authors | Margaret M McGovern, Natalie Lippa, Emilia Bagiella, Edward H Schuchman, Robert J Desnick, Melissa P Wasserstein |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 15
Issue 8
Pg. 618-23
(Aug 2013)
ISSN: 1530-0366 [Electronic] United States |
PMID | 23412609
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- SMPD1 protein, human
- Sphingomyelin Phosphodiesterase
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Topics |
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- Cohort Studies
- Female
- Hemorrhage
(etiology, mortality)
- Humans
- Infant
- Liver Failure
(etiology, mortality)
- Male
- Middle Aged
- Morbidity
- Niemann-Pick Disease, Type B
(complications, epidemiology, mortality)
- Pneumonia
(etiology, mortality)
- Sphingomyelin Phosphodiesterase
(genetics)
- Young Adult
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