نتایج جستجو برای: methylmalonic acidemia disorder
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Defects in two subunits of succinate-CoA ligase encoded by the genes SUCLG1 and SUCLA2 have been identified in mitochondrial DNA (mtDNA) depletion syndromes. Patients generally present with encephalomyopathy and mild methylmalonic acidemia (MMA), however mutations in SUCLG1 normally appear to result in a more severe clinical phenotype. In this report, we describe a patient with fatal infantile ...
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...
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 ...
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