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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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Detalles Bibliográficos
Autores principales: Pritchard, Amanda Barone, Strong, Alanna, Ficicioglu, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041253/
https://www.ncbi.nlm.nih.gov/pubmed/32093730
http://dx.doi.org/10.1186/s13023-020-1328-6