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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.
- Source :
-
Case reports in pediatrics [Case Rep Pediatr] 2018 Jan 21; Vol. 2018, pp. 4375434. Date of Electronic Publication: 2018 Jan 21 (Print Publication: 2018). - Publication Year :
- 2018
-
Abstract
- Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
Details
- Language :
- English
- ISSN :
- 2090-6803
- Volume :
- 2018
- Database :
- MEDLINE
- Journal :
- Case reports in pediatrics
- Publication Type :
- Report
- Accession number :
- 29527374
- Full Text :
- https://doi.org/10.1155/2018/4375434