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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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Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: Pritchard, Amanda Barone, Strong, Alanna, Ficicioglu, Can
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
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
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