Sentence examples for by inborn errors of from inspiring English sources

In 1908 British physician Archibald Garrod proposed the important idea that the human disease alkaptonuria, and certain other hereditary diseases, were caused by inborn errors of metabolism, suggesting for the first time that linked genes had molecular action at the cell level.

Intestinal chronic inflammation may be caused by inborn errors of macrophages in patients with CD.

PE is predominantly caused by inborn errors of metabolism, hereafter called metabolic diseases.

This is challenging in a rare disease context, as exemplified by inborn errors of metabolism.

The development in therapeutic strategies has increased survival of children affected by inborn errors of metabolism with restricted diet (IEMRD).

Diseases caused by inborn errors of metabolism such as SSADH deficiency and other human pathologies are characterized by elevated levels of GABA and oxidative stress.

In some individuals, susceptibility may be increased by rare inborn errors of GSH synthesis or by pathophysiological states which markedly affect GSH levels, e.g. hepatic failure, although any contrary effects on CYP2E1 activity would need to be taken into account.

However, two findings the initially observed refractory hypoglycemia and the elevated lactate to pyruvate ratio in the blood (55.2 = 6.9 mmol/l [lactate] to 0.125 mmol/l [pyruvate] in blood samples taken simultaneously)—were not characteristic of PDH deficiency and could have been each of them caused by many other inborn errors of metabolism [2, 4].

The importance of the role that the lysosome plays in the delivery of Cbl to MS and MMCM has been highlighted by the discovery of two inborn errors of Cbl metabolism referred to as cblF and cblJ [ 5– 7].

& Casanova, J.L. Discovery of single-gene inborn errors of immunity by next generation sequencing.

Our case of pyruvate dehydrogenase E3-binding protein deficiency could have equally been solved by targeted gene panels restricted on inborn errors of metabolism and/or mitochondrial disorders.