نتایج جستجو برای: urine methylmalonic acid umma
تعداد نتایج: 802929 فیلتر نتایج به سال:
We investigated the use of a diode array detector in conjunction with isocratic cation-exchange liquid chromatography for detection of organic acids in urine. The spectra and retention times of abnormal peaks found on chromatography of urine from patients with methylmalonic aciduria, maple syrup urine disease, and lactic aciduria were recorded and compared with those obtained for group of pure ...
a 2-year-old boy was born at term of healthy, non-consanguineous iranian parents. his mother attended in the clinic with the history of sometimes discoloration of diapers after passing urine. she noticed that first at the age of one month with intensified in recent months. his physical examination and growth parameters were normal. his mother denied taking any medication (sorbitol, nitrofuranto...
INTRODUCTION Severe falciparum malaria is commonly complicated by metabolic acidosis. Together with lactic acid (LA), other previously unmeasured acids have been implicated in the pathogenesis of falciparum malaria. METHODS In this prospective study, we characterised organic acids in adults with severe falciparum malaria in India and Bangladesh. Liquid chromatography-mass spectrometry was use...
Homocysteine and methylmalonic acid are important biomarkers for diseases associated with an impaired central nervous system (CNS). A new chemoassay utilizing coumarin-based fluorescent probe 1 to detect the levels of homocysteine is successfully implemented using Parkinson's disease (PD) patients' blood serum. In addition, a rapid identification of homocysteine and methylmalonic acid levels in...
OBJECTIVES To set up a novel simple, sensitive, and reliable ion-pairing HPLC method for the synchronous separation of several purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis and screening of inborn errors of metabolism (IEM). DESIGN AND METHODS The separation was set up using a Hypersil C-18, 5-microm particle size, 250 x 4.6 mm column, and a...
Determination of methylmalonic acid (MMA) in serum has been established as an accurate test for the diagnosis of cobalamin deficiency. We describe here the development and performance of a liquid-chromatographic assay of MMA in blood and urine. The assay is based on our recent finding that one of the carboxylic acid moieties of some short-chain dicarboxylic acids reacts with the fluorogenic rea...
I . Urinary excretion of total ether-soluble acids and of methylmalonic acid was studied in rats on vitamin BI2-deficient diets with and without a vitamin Blz supplement. 2. It was shown that urinary excretion of total ether-soluble acids and methylmalonic acid was increased in vitamin R1,-deficient rats and that this increase was somewhat variable between individual animals, males and females,...
SUMMARY Methylmalonic acidemia is an inborn disorder of amino acid metabolism that commonly presents with neurologic deficits. We present the results of multi-slice proton MR spectroscopy and diffusion-weighted imaging of the brain in two patients with methylmalonic acidemia. The findings consisted of restricted diffusion and elevated lactate in the globi pallidi, compatible with acute infarcti...
One pedigree with four patients has been recently described with mitochondrial DNA depletion and mutation in SUCLA2 gene leading to succinyl-CoA synthase deficiency. Patients had a Leigh-like encephalomyopathy and deafness but besides the presence of lactic acidosis, the profile of urine organic acid was not reported. We have studied 14 patients with mild 'unlabelled' methylmalonic aciduria (MM...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید