نتایج جستجو برای: aspartoacylase deficiency
تعداد نتایج: 137211 فیلتر نتایج به سال:
We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to aspartate and acetate. The wild-type ASPA open reading frame (ORF) and the ORFs containing each of the variants were transfected into HEK293 ce...
glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most prevalent enzymopathy in mankind. it has sex-linked inheritance. this enzyme exists in all cells. g6pd deficiency increases the sensitivity of red blood cells to oxidative damage. g6pd deficiency was discovered in 1950 when some people suffered hemolytic anemia as a result of taking antimalarial drugs (primaquin). most people w...
Canavan disease (CD), an autosomal recessive neurodegenerative disorder, is caused by mutations in the aspartoacylase (ASPA) gene. In the present study, the ASPA gene was analyzed in 24 non-Jewish patients with CD from 23 unrelated families. Within this cohort, we found three large novel deletions of approximate 92, 56, and 12.13 kb in length, using both self-ligation of restriction endonucleas...
The utilization of molecular endpoints in ecotoxicology can provide rapid and valuable information on immediate organismal responses to chemical stressors and is increasingly used for mechanistic interpretation of effects at higher levels of biological organization. This study contributes knowledge on the sublethal effects of a commonly used insecticide, the phenylpyrazole fipronil, on larval f...
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...
Introduction: Deficiencies in micronutrients are a major health issue in all ages , especially children, in developing countries. Severe or long-term iron deficiency will lead to iron deficiency anemia and thus affect children’s growth and development. This review article tried to determine the neurodevelopmental effects of deficiency in this micronutrient among children. Methods: A compr...
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 ...
introduction: iron deficiency (id) is the most prevalent nutritional disorder in the world. the prevalence of iron deficiency anemia (ida) is about 9% in toddlers, 9-11% in adolescent girls and less than 1% in teenage boys. ida presents when there is not sufficient iron for haemoglobin synthesis. in particular it has negative effects on the behavior, cognitive performance, immune system and phy...
background: iron deficiency and its related anemia, which is the world’s most widespread nutritional deficiency, can be one of the possible consequences of regular blood donation. this research was carried out to compare iron stores in regular blood donors and first-time blood donors in tehran regional blood transfusion center. materials and methods: this study was carried out on 2,149 male blo...
iodine is a trace element in the human body, its only known function is the synthesis of thyroid hormones. effects of iodine deficiency, termed iodine deficiency disorders (idd), include endemic goiter, hypothyroidism, cretinism, decreased fertility rate, increased infant mortality and mental retardation. 2.2 billion people worldwide are at risk for idd. of these, 30-70% have goiter and 1-10% h...
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