نتایج جستجو برای: inborn error of metabolism
تعداد نتایج: 21199544 فیلتر نتایج به سال:
The differential diagnosis of the acutely ill newborn should include inborn errors of metabolism along with much more common conditions such as sepsis and hypoxemia. Testing recommendations, which can take place simultaneously with other studies, are presented for the evaluation of inborn errors in acutely ill newborns. Initial hospital-based tests include arterial blood gases, glucose, electro...
TADA, K., Y OSHIDA, T. and ARAAAWA, Ts. Free Amino Acid Pattern in the Liver from the Patients with Amino Acid Disorders: Postmortem Diagnosis of Inborn Errors of Amino Acid Metabolism. Tohoku J. exp. Med., 1970, 101 (3), 223-226 Free amino acid concentrations were determined in the liver biopsied or autopsied from the patients with amino acid disorder and from several controls. The results sho...
Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated with Leigh-like disease. However, this diagnosis was excluded by HIBCH sequencing and normal enzyme activity. In contrast to HIBCH deficiency,...
the present study was concerned with exploring the frequency and linguistic focus of corrective feedback types given by novice and experienced female teachers working with young learners and compared it with those of elementary classes for adults. moreover, it aimed at measuring learners’ acknowledgement of teachers’ corrective feedback in the form of uptake in relation to linguistic coverage o...
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید