Results 21 to 30 of about 2,600,769 (206)
Mexican consensus on lysosomal acid lipase deficiency diagnosis
Revista de Gastroenterología de México (English Edition), 2018 Introduction: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations ...
R. Vázquez-Frias +14 more
doaj +3 more sources
Lysosomal acid lipase deficiency – early diagnosis is the key
Hepatic Medicine: Evidence and Research, 2019 Georg Strebinger, Elena Müller, Alexandra Feldman, Elmar AignerFirst Department of Medicine, Paracelsus Medical University, Salzburg, AustriaAbstract: Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may ...
Strebinger G +3 more
doaj +1 more source
Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency [PDF]
Orphanet Journal of Rare Diseases, 2020 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.
Amanda Barone Pritchard +2 more
doaj +3 more sources
Production of a lipase from a pseudomonad species [PDF]
, 1991 A lipase-producing micro-organism was found to be a strain of Pseudomonas aeruginosa. When it was grown batchwise in a stirred 2 dM3 fermenter in a simple defined minimal salts medium containing yeast extract and glucose, it produced lipase at a ...
Smith, Catherine J.
core +7 more sources
Lysosomal acid lipase in cancer [PDF]
Oncoscience, 2015 Lysosomal Acid Lipase Regulates Myeloid-derived Suppressor Cells to Control Cancer Cell Proliferation and Metastasis. Inflammation critically contributes to cancer growth and metastasis, in which myeloid-derived suppressor cells (MDSCs) are an important participant. MDSCs are known to suppress immune surveillance to promote tumorigenesis [1]. Lysosomal
Yan, Cong, Zhao, Ting, Du, Hong
openaire +5 more sources
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study. [PDF]
Int J Mol Sci, 2022 Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by the LIPA gene leads to LAL deficiency (LAL-D) (OMIM 278000), one of the lysosomal
Mashima R, Takada S.
europepmc +2 more sources
Recent insights into lysosomal acid lipase deficiency. [PDF]
Trends Mol Med, 2023 Lysosomal acid lipase (LAL) is the sole enzyme known to degrade neutral lipids in the lysosome. Mutations in the LAL-encoding LIPA gene lead to rare lysosomal lipid storage disorders with complete or partial absence of LAL activity. This review discusses the consequences of defective LAL-mediated lipid hydrolysis on cellular lipid homeostasis ...
Korbelius M +4 more
europepmc +4 more sources
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease [PDF]
NutrientsJavier Adolfo de Las Heras Montero +2 more
exaly +2 more sources
Lysosomal acid lipase deficiency [PDF]
, 2020 Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides to generate free fatty acids and cholesterol in the cell and is a critical step in human lipid metabolism. Lysosomal acid lipase deficiency is a rare, monogenic autosomal recessive lysosomal storage disorder caused by mutations in the lipase A (LIPA) gene, resulting in reduced or ...
Johnathon Seth Parham +1 more
openaire +2 more sources
Lysosomal acid lipase deficiency in a 6-year-old child: case report
Archives of the Balkan Medical Union, 2020 Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI +2 more
doaj +1 more source