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Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
BACKGROUND: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides. The phenotypic spectrum is diverse, ranging from severe, neonatal onset f...
Shranjeno v:
| izdano v: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7041253/ https://ncbi.nlm.nih.gov/pubmed/32093730 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1328-6 |
| Oznake: |
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