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Screening for Lysosomal Acid Lipase Deficiency

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

Summary

The primary outcome of this study is the development of a clinical profile of pediatric patients with LAL-D, which will enable the Sponsor to provide more focused guidance to the medical community as to which pediatric patients should be tested for LAL-D.

Study Design

N/A

Conditions

Lysosomal Acid Lipase Deficiency

Intervention

There is no intervention in the study

Location

Children's Healthcare of Atlanta
Atlanta
Georgia
United States
30342

Status

Not yet recruiting

Source

Alexion Pharmaceuticals

Results (where available)

View Results

Links

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

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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.

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

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

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PubMed Articles [22528 Associated PubMed Articles listed on BioPortfolio]

Opening a window on lysosomal acid lipase deficiency: biochemical, molecular and epidemiological insights.

Lysosomal acid lipase deficiency (LAL-D) is a multi-organ autosomal recessive disease caused by mutations in LIPA.

Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study.

Lysosomal acid lipase deficiency (LALD) leads to the accumulation of cholesteryl esters and/or triglycerides (TG) in lysosomes due to the lack of the enzyme codified by the LIPA gene. The most common ...

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.

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Cathepsin L-deficiency enhances liver regeneration after partial hepatectomy.

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Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders.

Cholestane-3β,5α,6β-triol (3β,5α,6β-triol) is formed from cholestan-5,6-epoxide (5,6-EC) in a reaction catalysed by cholesterol epoxide hydrolase, following formation of 5,6-EC through free radi...

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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