Sentence examples for metabolic defect from inspiring English sources

The underlying metabolic defect is a defective transport of cystine across the lysosomal membrane [ 1, 2].

Such hepatic copper accumulation can result from increased uptake of copper, a primary metabolic defect in hepatic copper metabolism, or from altered biliary excretion of copper.

While it is not surprising that mutations in ETF genes or ETFDH would lead to impaired fatty acid, choline and amino acid metabolism, it is interesting that a broader metabolic defect is also present.

This strongly suggested that the metabolic defect(s) truly resided in carbon metabolism.

As these observations implicated a metabolic defect, glucose utilization, which is an indicator of glucose metabolism and ATP production in beta cells, was measured and found to be reduced by 40% in the transgenic cells.

These data also suggest that changes in high energy phosphate metabolism may reflect differences in substrate oxidation/supply rather than an underlying metabolic defect in the myocardium.

It may be that SIRT6 affects transcription at many loci in a tissue-specific manner; the metabolic defect associated with the lack of SIRT6 could represent the net result of defective regulation of multiple genes.

Selden, C. et al. Histidinemia in mice: a metabolic defect treated using a novel approach to hepatocellular transplantation.

One of the 4 had a specific multiple malformation syndrome, and 1 dysmorphic infant had a rare metabolic defect.

The underlying metabolic defect is unknown, but the disease appears to start with the secretion of unusually thick and sticky mucus.

In humans, loss of activity of a lysosomal enzyme leads to an inherited metabolic defect known as a lysosomal storage disorder.