نتایج جستجو برای: glucosephosphate dehydrogenase deficiency
تعداد نتایج: 199743 فیلتر نتایج به سال:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzyme defect and an important problem in areas with Plasmodium vivax infection because of the risk of haemolysis following administration of primaquine to treat the liver forms of the parasite. We undertook a genotypic survey of 713 male individuals across nine provinces of Afghanistan in which malaria is found, four in ...
in this study the data on 115 cases of congenital adrenal hyperplasia (cah) who were followed in the pediatric endocrine clinic at nemazee hospital, shiraz will be reported. among these cases 51 were male and 64 female. the most common type of cah in these patients was the salt-losing type of 21 -hydroxylase deficiency (85 .2%). ll-hydroxylase deficiency was present in 13.04% of patients. there...
inflammatory leukoencephalopathy and dihydropyrimidine dehydrogenase deficiency Article abstract—Multifocal inflammatory leukoencephalopathy (MIL) is a cerebral demyelinating syndrome that develops after chemotherapy with 5-fluorouracil (5-FU) and levamisole. The authors report a patient who developed MIL after 5-FU administration not in association with levamisole. She was subsequently diagnos...
Dihydropyrimidine dehydrogenase deficiency is diagnosed more frequently and is now generally accepted as a potentially life-threatening condition. It predisposes patients receiving treatment with fluoropyrimidines such as 5-fluorouracil (5-FU) to severe and, in case of complete dihydropyrimidine dehydrogenase deficiency, often fatal toxicity. A patient who had severe side effects following stan...
Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD) type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH), α-ketoglutarate dehydrogenase (αKGDH), and pyruvate dehydrogenase (PDH). DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype....
Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involv...
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