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Screening for Lysosomal Acid Lipase Deficiency

2016-10-11 01:02:40 | BioPortfolio

Published on BioPortfolio: 2016-10-11T01:02:40-0400

Clinical Trials [1860 Associated Clinical Trials listed on BioPortfolio]

Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency

This study will evaluate the safety and efficacy of sebelipase alfa in a broad population of patients with lysosomal acid lipase deficiency (LALD).

Lysosomal Acid Lipase Increase After Chetogenic Diet.

The very low carbohydrates diet (VLCKD) induces liver steatosis amelioration. Lysosomal acid lipase (LAL) deficiency plays a role in fats accumulation in liver. To date, no studies have as...

Lysosomal Acid Lipase (LAL) Deficiency Registry

This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treat...

Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients

Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholestero...

Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.

Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholestero...

PubMed Articles [22322 Associated PubMed Articles listed on BioPortfolio]

Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.

Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder. In severe cases, it can cause life-threatening organ failure due to lipid substrates accumulation. However, mild phenotypes of...

The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease.

Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplaine...

Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia.

BACKGROUND Lysosomal acid lipase deficiency is a rare genetic metabolic lipid storage disease, with a high morbidity, and mortality, in children and adults. It is characterized by a mutation in the LI...

The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: a rare condition that mimics NAFLD.

Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive condition that may present in a mild form (cholesteryl ester storage disease (CESD)), which mimics non-alcoholic fatty liver disease ...

Inhibitory mechanism and molecular analysis of furoic acid and oxalic acid on lipase.

Lipase hydrolyzes fat to free fatty acid and monoacylglycerol, which can be absorbed. Lipase inhibitors reduce the absorption of fat by intestinal cells. In this paper, we explored a novel treatment f...

Medical and Biotech [MESH] Definitions

An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.

The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.

A ceramidase subtype that is active at acid pH. It plays an important role in sphingolipid degradation by catalyzing the lysosomal hydrolysis of ceramide to sphingosine and free fatty acid. Inherited deficiency of acid ceramidase activity results in FARBER LIPOGRANULOMATOSIS.

A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS. It contains a cofactor for LIPOPROTEIN LIPASE and activates several triacylglycerol lipases. The association of Apo C-II with plasma CHYLOMICRONS; VLDL, and HIGH-DENSITY LIPOPROTEINS is reversible and changes rapidly as a function of triglyceride metabolism. Clinically, Apo C-II deficiency is similar to lipoprotein lipase deficiency (HYPERLIPOPROTEINEMIA TYPE I) and is therefore called hyperlipoproteinemia type IB.

A study in which observations are made before and after an intervention, both in a group that receives the intervention and in a control group that does not.

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