Advertisement

Topics

Screening for Lysosomal Acid Lipase Deficiency

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

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

Clinical Trials [1781 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...

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...

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...

PubMed Articles [22556 Associated PubMed Articles listed on BioPortfolio]

Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies.

Lysosomal acid lipase (LAL), encoded by the LIPA gene, is an essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome. This review highlights the novel p...

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 erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases.

Erythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused ...

A Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical presentation in 19 Polish Patients.

Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal lipid storage disorder that results in an early-onset, severe and lethal phenotype, known as Wolman disease, or a late-...

Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients.

Lysosomal acid lipase deficiency (LAL-D) results in progressive microvesicular hepatosteatosis, fibrosis, cirrhosis, dyslipidemia, and vascular disease. Interventions available prior to enzyme replace...

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.

More From BioPortfolio on "Screening for Lysosomal Acid Lipase Deficiency"

Advertisement
Quick Search
Advertisement
Advertisement

 

Searches Linking to this Trial