نتایج جستجو برای: organic acidemia
تعداد نتایج: 203483 فیلتر نتایج به سال:
Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency, glutaric acidemia 1) (OMIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding enzyme glutaryl-CoA (GCDH). Glutaryl-CoA (GCDH) plays important role degradation metabolism of L-lysine, L-hydroxylysine and L-tryptophan. The insufficiency or absence leads to accumulation by-products such amino acids as ...
Ethylmalonic encephalopathy is a devastating, infantile, autosomal recessive, metabolic disorder caused by defects in the mitochondrial sulfur dioxygenase, ETHE1, and characterized by ethylmalonic and methylsuccinic aciduria, lactic acidemia associated with developmental delay, orthostatic acrocyanosis, recurrent petechiae, chronic diarrhea, and abnormalities on brain MRI. The authors also repo...
Electronic fetal monitoring (EFM) is widely used in intrapartum care as the standard method for well-being. Our objective was to employ machine learning algorithms predict acidemia by analyzing specific features extracted from heart signal within a 30 min window, with focus on last deceleration occurring closest delivery. To achieve this, we conducted case–control study involving 502 infants bo...
The concept of diet-induced 'acidosis' as a cause of disease has been a subject of interest for more than a century. The present article reviews the history of our evolving understanding of physiological pH, the physiological support for the concept of 'acidosis', the causes of acidosis, how it is recognised, its short-term effects as well as the long-term clinical relevance of preventative mea...
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