نتایج جستجو برای: iduronidase enzyme deficiency
تعداد نتایج: 368943 فیلتر نتایج به سال:
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...
Abstract Background About 7.5% of the world population carries one or two deficient copy of glucose-6-phosphate dehydrogenase (G6PD) genes. According to WHO, its prevalence in Iran is 10 to 14.9%. This study aimed on determination of frequency of G6PD deficiency in neonates with jaundice who were hospitalized during 6 months (September 2008 to February 2009) in the city of Yazd, Iran. Materi...
objective(s): particularly in developing countries, selenium and/or iodine deficiencies are encountered and use of pesticides in agriculture are not well-controlled. fenvalerate is a pyrethroid insectide used in agriculture and has applications against a wide range of pests. this study was designed to evaluate the effects of fenvalerate on hepatic and cerebral xenobiotic metabolizing enzyme act...
Sandhoff is a rare genetic disease with autosomal recessive inheritance, caused by deficiency in hexosaminidase B enzyme. Symptoms usually begin 6 months after birthday and include developmental delay, visual impairment, seizures, and cherry red spots in the eyes. In this report we present a patient with Sandhoff disease which is confirmed by enzyme assay and molecular methods.
background: one of the most important enzymatic disorders that interact with malaria is deficiency of g6pd (gloucose-6-phosphate dehydrogenase). this enzyme protects red blood cells from hydrogen peroxide and other oxidative damages. distribution of this enzyme deficiency usually accompanies with low level distribution of malaria disease in most malarious areas. so this hypothesis may be consid...
Glucose-6-Phosphate dehydrogenase (G6PD) deficiency is a common enzyme deficiency in the world. It's Prevalence inIranis about 12% in male & about 1% in female. The present study did examine the relation between the development of preeclampsia and G6PD deficiency. It was investigated whether or not the risk of preeclampsia in G6PD deficient women is higher than that in normal pregnant women.A t...
Mucopolysaccharidoses (MPS) are a family of genetic diseases associated with deficiency alpha-L iduronidase, which causes lack catabolism glycosaminoglycans (GAGs). Therefore, the accumulation GAGs determines wide spectrum symptoms, typically found in few syndromes like Hurler syndrome (HS). Among other specific manifestations, craniofacial abnormalities crucial for characterization this syndro...
Background and purpose: Despite wide fight against malaria in endemic regions, it is still one of the most serious infectious diseases in some parts of the world. Primakin is effective in treatment and prevention of malaria. However, individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency are at risk for hemolysis and its complications when taking primakin. This study was performe...
Abstract: Congenital enteropeptidase deficiency (CEP), also known as enterokinase deficiency. CEP is an uncommon autosomal recessive genetic disorder mostly characterized by severe chronic diarrhoea after delivery, hypoproteinemia, and failure to grow. Enteropeptidase activity anticipated play a significant role in protein digestion. For growth appropriate development newborns with congenital l...
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