نتایج جستجو برای: children methylmalonic acidemia
تعداد نتایج: 465142 فیلتر نتایج به سال:
Objective: Vitamin B12 deficiency is a common health issue in children. Though the sensivity of serum vitamin measurement for diagnosis low, combined methylmalonic acid, homocysteine and holotranscobalamin have been reported to be more specific biomarkers early accurate diagnosis. In this study, we aimed verify children by measuring homocysteine, determine accuracy them.
 
 Material M...
Because of this specificity, a proportion of patients who are investigated for vitamin B 12 deficiency will end up being tested for the presence of IFABs, regardless of the diagnostic cascade favored by the investigating physician(s) (1, 2). In referral laboratories, this may lead to substantial test volumes of labor-intensive manual RIAs, with all the associated problems. These range from an i...
BACKGROUND Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). Nearly all reported cases are caused by malonyl-CoA decarboxylase (MCD) deficiency. Most patients have metabolic acidosis, developmental delay, seizures and cardiomyopathy. CMAMMA was also described in...
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