نتایج جستجو برای: methylmalonic academia
تعداد نتایج: 18694 فیلتر نتایج به سال:
The industrial world and the academic world have grown far apart. The distance between the worlds primarily originates from different goals and different means of support. This is a problem in the areas of systems engineering and multidisciplinary design. These areas are relatively young, providing lots of opportunity for research. Education in this area is scarce. Publications are tangible exa...
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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