نتایج جستجو برای: methylmalonic academia
تعداد نتایج: 18694 فیلتر نتایج به سال:
Methylmalonic acid (MMA) is a biomarker for vitamin B12 deficiency. This application note describes a fast, simple, and sensitive method to detect MMA in plasma that uses a zwitterionic hydrophilic interaction chromatography (ZIC®-HILIC) column with LC-MS or LC-MS/MS. Introduction Methylmalonic acid (MMA) levels in serum, plasma and urine are used to monitor cobalamin (vitamin B12) deficiency1 ...
Because cobalamin deficiency is routinely treated with parenteral cobalamin, we investigated the efficacy of oral therapy. We randomly assigned 38 newly diagnosed cobalamin deficient patients to receive cyanocobalamin as either 1 mg intramuscularly on days 1, 3, 7, 10, 14, 21, 30, 60, and 90 or 2 mg orally on a daily basis for 120 days. Therapeutic effectiveness was evaluated by measuring hemat...
Materials and Methods: Fifty women having migraine without aura were matched with healthy controls (n=6) with the same age distribution. Fasting serum vitamin B12, folate, plasma total homocysteine (tHcy) and first morning urine methylmalonic acid (MMA) levels were determined in patient and control groups. Statistical differences in laboratory parameters between patient and control groups were ...
BACKGROUND Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic disorder consisting of an impaired intracellular synthesis of the 2 active forms of vitamin B12 (cobalamin), namely, adenosylcobalamin and methylcobalamin, that results in increased levels of methylmalonic acid and homocysteine in the blood and urine. Most patients present...
Methylmalonic acidemias consist of a group of inherited neurometabolic disorders caused by deficiency of methylmalonyl-CoA mutase activity clinically and biochemically characterized by neurological dysfunction, methylmalonic acid (MMA) accumulation, mitochondrial failure and increased reactive species production. Although previous studies have suggested that nitric oxide (NO) plays a role in th...
Recurrent infections are common features in patients affected by propionic acidaemia (McKusick 232000) and methylmalonic acidaemia (McKusick 251000). Since these disorders are biochemically characterized by tissue accumulation of propionic acid and methylmalonic acid respectively, it is possible that these compounds may act as immunosuppressants. We therefore investigated the effect of propiona...
Methylmalonic acidemia (MMA) is a disorder of organic acid metabolism. It consists of a group of biochemically and genetically distinct disorders that produces a block in the conversion of methylmalonyi-CoA to succinyi-CoA, with consequent accumulation of methylmalonate in the blood and urine, secondary hyperammonemia, and often severe ketoacidosis [1]. Methylmalonic acid is part of the organic...
The number of high level MOOCs produced by top universities can contribute to an increasing flexibility in academia but we seem somewhat hesitant in offering them to our students. When Wageningen university decided to integrate its own MOOCs in the electives for the campus students, we discovered that most obstacles were caused by academic beliefs and systems, anchored in our face to face educa...
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