Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy affecting about 400 millionpeople worldwide. The distribution of G6PD deficiency and the molecular genetics of this enzyme vary widelyamong different ethnic groups. The aim of this study was to find out the frequency of G6PD deficiency andcharacterize the Mediterranean type mutation in deficient individuals ...

how to cite this article: shalbafan b. a family case report of niemman pick c with new mutation and different presentations. iran j child neurol. 2015 autumn;9:4(suppl.1): 20-21.   pls see pdf.

background: glucose-6-phosphate dehydrogenase (g6pd) is an x-linked enzymopathy affecting about 400 million people worldwide. neonatal jaundice, drug induced haemolysis and infection-induced haemolysis may happen in some deficient individuals and lead to considerable mortality. the distribution of g6pd deficiency and the molecular genetics of this enzyme vary widely among different ethnic group...

xanthan gum is a microbial polysaccharide of great commercial importance as it has unusual rheological properties in solution and consequent range of applications. in this study, a series of mutants were isolated from xanthomonas campestris ptcc 1473 by ethyl methanesulfonate mutagenesis. the polysaccharide yield of one mutant, xc1473e2, was 30% better than that of the parent strain. it also sh...

background: trichomoniasis is a worldwide protozoan parasitic disease and metronidazole is a choice drug for its treatment. because of disease importance in public health and its controversial ideas about the prevalence of drug resistance, this study was carried out. methods: fifty-two suspected vaginal samples were collected from 2006 to 2007 in gynecology maryam hospital, tehran, iran. all is...

background and aim: jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (g6pd) deficiency, some mutation types of which may be associated with severe neonatal icter. in this line, the present study has been conducted to compare g6pd mutations in incteric and non icteric neonates. materials and methods: this case-control study was impleme...

Background and Objective: Epidermal growth factor receptor (EGFR) gene mutation, especially in exons 18 to 21, is an important predictor of the response rate of lung adenocarcinoma to tyrosine kinase inhibitors. There are variable reports from Asian and European countries, as well as North America, about the frequency of the EGFR mutation in lung adenocarcinoma, yet molecular s...

introduction: colorectal cancer (crc) is one of the most prevalent cancers in the world. genetic disorders and dietary habits play a part in crc. the most important cancer suppressor gene is p53. different mutations rates in 7th exon of p53 gene are reported in different areas  which may have a relationship with prognosis of crc. this study examines the relationship between mutation in 7th exon...