Sentence examples for metabolic errors from inspiring English sources

They were formulated before Mendel's Laws were widely known and accepted and before the chromosomal theory of inheritance, the recognition of inborn metabolic errors, the existence of hormones and the mechanism of nervous impulse were known.

Indeed, heterogeneous mitochondrial diseases are now recognized to constitute the most common group of inborn metabolic errors, with a minimal estimated 1 in 5,000 lifetime prevalence [2], [3].

Metabolomics was first applied to the study of toxicology and pharmacology, inborn metabolic errors, and nutrition [ 10].

Because nerve cells grow but do not regenerate, the brain is the organ best suited for the accumulation of metabolic errors colocalized in specific areas of the brain over an extended period.

Telomere-independent DSBs, which localize at chromosome arms, can be induced by a variety of agents including ionizing radiation, radiomimetic drugs, reactive oxygen species, metabolic errors during replication and transcription, and deficient DNA repair [ 7].

Allogeneic hematopoietic SCT has become an essential part of the standard therapeutic repertoire in several hematological diseases, such as acute or chronic leukemias, other hematological malignancies, inborn metabolic errors and conditions of BM failure.

*Maple syrup urine disease, a lethal, retardation-causing metabolic error known technically as branched-chain ketoaciduria that affects one baby in 250,000.

you have a metabolic error causing an alteration in your urinary matrix resulting in the formation of kidney stones.

Active site IDH1 and IDH2 mutations are associated with brain cancer and acute myeloid leukemia, with the mutant enzyme producing the metabolic error product d-2HG.

The importance of this serendipitous case was that it indicates that the metabolic error in Inherited Congenital Myoclonus was distal to the brain (and not involving oedema of the neuraxis), with subsequent studies demonstrating that the myoclonic signs were attributable to an inherited deficiency of spinal glycine receptor mediated inhibitory feedback of lower motor neurones [ 84].

For each metabolic state, errors caused by KIEs on the three isotopic datasets were calculated and are summarized in Fig.  7.