نتایج جستجو برای: urine methylmalonic acid umma
تعداد نتایج: 802929 فیلتر نتایج به سال:
Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metabolic acidosis, the others with nonspecific neurological symptoms or asymptomatic. The clinical significance and biochemical characteristics of this...
BACKGROUND Effects of circulatory arrest upon an inborn error of metabolism patient are unknown. METHODS A retrospective chart review was performed of outcome and biochemical parameters obtained during palliative cardiac surgery for a mutase-deficient methylmalonic aciduria patient with Ebstein's cardiac anomaly was performed. RESULTS The levels of ammonia, methylmalonic acid, free carnitin...
External quality assessment of urinary methylmalonic acid quantification - results of a pilot study.
Measurement of methylmalonic acid (MMA) is recognised as a useful tool in the diagnostic work-up of suspected cobalamin deficiency (1). Increased concentrations of MMA in both serum and urine are indicative of cobalamin deficiency at the tissue level. MMA measurement in serum as the sample material is convenient from a logistic point of view, since analysis can be performed using residual sampl...
BACKGROUND US adults have access to multiple sources of folic acid. The contribution of these sources to usual intakes above the tolerable upper intake level (UL) (1000 microg/d) and to folate and vitamin B-12 status is unknown. OBJECTIVE The objective was to estimate usual folic acid intake above the UL and adjusted serum and red blood cell folate, vitamin B-12, methylmalonic acid, and homoc...
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5'-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized. The levels of methylmalonic acid and homocysteine, which serve as indicators of cobalamin deficiency, were significantly increased in C. elegans treated with the dodecylamine d...
BACKGROUND Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the homeostasis of methylmalonic acid and homocysteine. Nine defects of intracellular cobalamin metabolism have been defined by means of somatic complementat...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید