نتایج جستجو برای: iduronidase enzyme deficiency
تعداد نتایج: 368943 فیلتر نتایج به سال:
Introduction: Glucose-6-phosphate dehydrogenase deficiency is the most common enzyme disorder. This enzyme involved in maintaining the balance of active oxygen species and its defect causes oxidative damage. PON1 is an HDL-based glycosylated protein that prevents lipid peroxidation. In this study, the prevalence of PON L55M polymorphism in paraoxonase enzyme in neonates with a deficiency in G6P...
Introduction: In addition to G6PD deficiency, human erythrocyte pyruvate kinase (PK-R) deficiency is one of the most common causes of non-spherocytic hemolytic anemia. Clinical severity of this disorder is not the same in homozygote form of this disease and ranges from mild to chronic and anemia; so it has a wide variation. Severely effected individuals require blood transfusions or splenectomy...
BACKGROUND Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes that are deficient in Mucopolysaccharidosis type I, Fabry, Gaucher and Pompe disease, using dried blood spots on filter paper (DBS) samples in a Br...
The overall incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Iranian population is estimated around 10%-14.9%. G6PD deficiency is an X-linked disorder and 80% of donors are usually male. At present, donors’ blood is not routinely screened for G6PD deficiency in Iran blood bank where for detecting such enzyme deficiency, reliance is placed on pre-donation data. Thus, the G6PD ...
INTRODUCTION Mucopolysaccharidosis type I (MPS I) is a progressive multisystem lysosomal storage disease caused by deficiency of the enzyme α-L-iduronidase (IDUA). Patients present with a continuous spectrum of disease severity, and the most severely affected patients (Hurler phenotype; MPS I-H) develop progressive cognitive impairment. The treatment of choice for MPS I-H patients is haematopoi...
ammonia is a toxic material for mammalians. it is detoxificated and converted to urea in the urea cycle in liver. each defect in the urea cycle cause increase in blood ammonia level. ornithine transcarbamylase enzyme (otc) is the second enzyme in the urea cycle that exists in mitochondria. otc deficiency is the most common hereditary disorder in the urea cycle. in this study, 45 hyper ammonia p...
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