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I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.
Primary Purpose: Screening
Active, not recruiting
Office of Rare Diseases (ORD)
Published on BioPortfolio: 2014-08-27T03:58:18-0400
The purpose of this study is to learn more about what causes insulin resistance. It has been suggested that proper breakdown of fat into energy (oxidation) in the body is important to all...
Humans eat long-chain fat in their diet and use it for energy during exercise and during periods of fasting. Patients with long-chain fatty acid oxidation disorders cannot use dietary fat ...
The ability to upregulate fat oxidation at appropriate times such as during fasting, low to moderate intensity exercise and after a high fat meal, is an important marker of health and a de...
We intend to examine the effect of a commercially available nutritional supplement, Beta-hydroxy-beta-methylbutyrate(HMB) on whole-body responses to a sugar load.
Under double-blind, placebo-controlled, cross-over conditions, the short-term effects of use of A1 beta casein free milk (a2 milk) and milk containing A1 beta casein will be compared in a ...
Intensive use of chlorinated pesticides from the 1960s to the 1990s has resulted in a diffuse contamination of soils and surface waters in the banana-producing areas of the French West Indies. The pur...
The one-pot production of succinic acid from glucose was investigated in pure hot water as solvent using Nb (0.02 and 0.05 moles%)-Beta zeolites obtained by a post-synthesis methodology. Structurally,...
This study aimed to examine the source-level cortical brain networks of post-traumatic stress disorder (PTSD) based on the graph theory using electroencephalography (EEG). Sixty-six cortical source si...
Type 1 and 2 diabetes are characterized by a loss of insulin-producing beta-cells. Current treatments help maintain blood glucose levels but cannot provide a cure. As such, a vital target for the cure...
Resistance to thyroid hormone beta (RTHβ) is an autosomal dominant disorder characterized by reduced sensitivity of target tissues to thyroid hormones (TH). Individuals with RTHβ have high TH levels...
An amino acid formed in vivo by the degradation of dihydrouracil and carnosine. Since neuronal uptake and neuronal receptor sensitivity to beta-alanine have been demonstrated, the compound may be a false transmitter replacing GAMMA-AMINOBUTYRIC ACID. A rare genetic disorder, hyper-beta-alaninemia, has been reported.
Enzymes that catalyze the first step in the beta-oxidation of FATTY ACIDS.
A PEROXISOME-specific enzyme that catalyzes the hydration step of the beta-oxidation pathway.
An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.
A group of enzymes that catalyze the reversible reduction-oxidation reaction of 20-hydroxysteroids, such as from a 20-ketosteroid to a 20-alpha-hydroxysteroid (EC 22.214.171.124) or to a 20-beta-hydroxysteroid (EC 126.96.36.199).
Enzymes are proteins that catalyze (i.e., increase the rates of) chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical re...
Benign Prostatic Hyperplasia (BPH) Erectile Dysfunction Urology Urology is the branch of medicine concerned with the urinary tract and diseases that affect it. Examples include urethritis, urethrostenosis and incontinence. Urology is a su...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...