نتایج جستجو برای: methylmalonic acidemia
تعداد نتایج: 2180 فیلتر نتایج به سال:
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100'000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic...
patients with organic acidemia are prone to different infections, which lead to acidosis episodes. some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the immune system in non-acidotic phase of the disease. in this study, thirty-one patients with organic acidemia were enrolled. for evaluation of hum...
background: urinary organic acids are water-soluble intermediates and end products of the metabolism of amino acids, carbohydrates, lipids, and a number of other metabolic processes. in the hereditary diseases known as organic acidurias, an enzyme or co-factor defect in a metabolic pathway leads to the accumulation and increased excretion of one or more of these acidic metabolites. gas chromato...
0
Patients with organic acidemia are prone to different infections, which lead to acidosis episodes. Some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the immune system in non-acidotic phase of the disease. In this study, thirty-one patients with organic acidemia were enrolled. For evaluation of hum...
TADA, K. and ARAKAWA, Ts. Hyperglycinemia and propionate carboxylation. Tohoku J. exp. Med., 1970, 102 (3), 313-314 The oxidation of propionate and methylmalonate was investigated in leukocytes from a patient with hyperglycin emia. It was found that the patient's leukocytes could oxidize both propionate and methylmalonate normally. These findings suggest that hyperglycinemia con sists of primar...
inherited disease, 7th ed. New York: McGraw-Hill, 1995:791–801. 5. Tanaka K, Orr JC, Isselbacher KJ. The identification of -hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. Biochem Biophys Acta 1968;152:638–41. 6. Tanaka K, Ikeda Y, Matsubara Y, Hyman D. Molecular basis of isovaleric acidemia in the study of the acyl-CoA dehydrogenase family. Adv Neurol 1988;48:107–31....
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید