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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...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | 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 |
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