نتایج جستجو برای: organic acidemia
تعداد نتایج: 203483 فیلتر نتایج به سال:
BACKGROUND Deaths from inherited metabolic disorders may remain undiagnosed after postmortem examination and may be classified as sudden infant death syndrome. Tandem mass spectrometry (MS/MS) may reveal disorders of fatty acid oxidation in deaths of previously unknown cause. METHODS We obtained filter-paper blood from 7058 infants from United States and Canadian Medical Examiners. Acylcarnit...
The analysis of urinary acylglycines is an important biochemical tool for the diagnosis of many organic acidemias and mitochondrial fatty acid β-oxidation defects. A new rapid analytical method has been developed for quantification of acylglycines in urine by liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). The method requires a simple sample preparation avoiding derivati...
how to cite this article: karimzadeh p, jafari n, jabbehdari s, taghdiri mm, nemati h, saket s, alaee mr, ghofrani m, tonakebni sh. methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 summer; 7(3): 63-66. objective methylmalonic acidemia is one of the inborn errors of metabolism resulting in ...
Case presentation: The case is about a 1 year and 9 month old infant, child of consanguineous parents, born at term, Apgar 9/10, with respiratory distress, vomiting hypoactivity starting 48 hours life, laboratory tests were performed that showed severe metabolic acidosis, in addition to not being suggestive infection blood culture without microorganisms growth. At the time, measurement organic ...
Este estudo teve como principal objetivo determinar a capacidade de complexação da Matéria Orgânica (MO) de regiões tipicamente agrícolas e urbanas, com os íons de cobre e níquel. As amostras foram coletadas durante as estações de seca e chuva e submetidas ao estudo da capacidade de complexação e da constante de estabilidade condicional da MO com os íons Cu(II) e Ni(II) usando um Espectrofluorí...
Although metabolic acidemia reduces the contractility of cardiac muscle in isolated preparations, it does not do so to the same extent in intact animals or those with a functioning sympathoadrenal system. The present study was designed to determine if the resistance of the heart to acidemia is the consequence of concurrent adrenergic influences on the myocardium. The function of the cat's left ...
OBJECTIVE To assess the utility of umbilical cord venous blood gas measures for prediction of umbilical artery pH and base deficit acidemia. METHODS A retrospective cohort study was conducted of all singletons with valid paired arterial and venous cord gas samples delivered at our institution from January 2006 to March 2012. Fetal acidemia was defined primarily as cord arterial blood gas pH l...
Dear Editor, Isovaleric acidemia (IVA) is a rare branched-chain organic acidemia caused by deficiency of isovaleryl-CoA dehydrogenase (IVD). Acute and chronic intermittent forms of IVA have been described. The acute form typically present during the neonatal period with acute encephalopathy, vomiting, dehydration, and severe metabolic acidosis. The chronic intemittent form is characterized by p...
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