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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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Bibliographic Details
Published in:Orphanet J Rare Dis
Main Authors: Pritchard, Amanda Barone, Strong, Alanna, Ficicioglu, Can
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
Subjects:
Online Access: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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