Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of Iran. Therefore in the present...

  Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

T he immune system appears to be rigid, restricting one lymphocyte to make one antibody (1) and the peripheral B cell pool to a constant number (10 8 in mice) (2– 4). To make a rapid immune response to an unlimited number of antigens at any anatomical site, it has developed at least three major strategies: (a) continuous production of 2 ϫ 10 7 lymphocytes/d from bone marrow (mice; 5), displayin...

results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...

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...