Cargando…
Progressive macrophage accumulation in lysosomal acid lipase deficiency
Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed. The disturbance in the synthesis and trafficking of cholesterol...
Autores principales: | Lipiński, Patryk, Cielecka-Kuszyk, Joanna, Bożkiewicz-Kasperczyk, Anna, Perkowska, Barbara, Jurkiewicz, Elżbieta, Tylki-Szymańska, Anna |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201182/ https://www.ncbi.nlm.nih.gov/pubmed/32382506 http://dx.doi.org/10.1016/j.ymgmr.2020.100594 |
Ejemplares similares
-
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature
por: Lipiński, Patryk, et al.
Publicado: (2021) -
DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases
por: Lipiński, Patryk, et al.
Publicado: (2023) -
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy
por: Lipiński, Patryk, et al.
Publicado: (2021) -
Long-term outcome of patients with alpha-mannosidosis – A single center study
por: Lipiński, Patryk, et al.
Publicado: (2021) -
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience
por: Lipiński, Patryk, et al.
Publicado: (2020)