نتایج جستجو برای: propionic acidemia
تعداد نتایج: 4552 فیلتر نتایج به سال:
organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.three approaches to prenatal diagnosis may be possible, including measur...
OBJECTIVE Metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia. MATERIALS & METHODS This cross-sectional study was part of a larger study conducted in patients with me...
organic academia are diverse group of disorders characterized by abnormal degredation of specific amino acid in the specific catabolism due to an enzymeactivity defect which mainly due to enzyme deficiency. the majority of the classic organic acid disorders are caused by abnormal catabolism of branched-chain amino acids like lysine. maple syrup urine disease (msud), propionic acidemia, methylma...
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