نتایج جستجو برای: enzyme deficiency
تعداد نتایج: 368842 فیلتر نتایج به سال:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a frequent X-chromosome-linked enzyme abnormality. G6PD is the first key enzyme in the pentose phosphate metabolic pathway and is involved in the generation of NADPH, which is indispensable for biosynthesis of reduced glutathione (GSH). GSH prevents hemoglobin denaturation, preserves the integrity of red blood cell (RBC) membrane sulfhy...
Background: Glucose-6 phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzyme deficiency of red blood cells involving the enzyme pathway of hexose monophosphate. This study was conducted to examine the effect of vitamin E and folic acid on the improvement of acute hemolysis caused by the G6PD deficiency in patients referred to 17 Shahrivar Hospital, Rasht. Materials and M...
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as ...
Background & Objective: Congenital Adrenal Hyperplasia(CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most com...
methylmalonic acidemia (mma) is usually caused by a deficiency of the enzyme methylmalonyl-coa mutase (mcm), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cbla, cblb, cblc, cblf, cbld, and cblx), or deficiency of the enzyme methylmalonyl-coa epimerase. a comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
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