نتایج جستجو برای: نقص در عملکرد آنزیم g6pd

تعداد نتایج: 761102  

2005

The glucose 6-phosphate dehydrogenase (G6PD) genotype was determined in 100 male patients with homozygous sickle cell anemia (55) by a combination of quantitative assay, cytochemical testing, and starch-gel electrophoresis. Of the 100 patients tested, 16 were found to be G6PD deficient (GdA_), and 84 G6PD normal (22 GsA and 62 Gd’). This distribution of G6PD genotypes did not differ significant...

Journal: :The New England journal of medicine 1972
U Bienzle O Sodeinde C E Effiong L Luzzatto

The glucose 6-phosphate dehydrogenase (G6PD) genotype was determined in 100 male patients with homozygous sickle cell anemia (SS) by a combination of quantitative assay, cytochemical testing, and starch-gel electrophoresis. Of the 100 patients tested, 16 were found to be G6PD deficient (GdA-), AND 84 G6PD normal (22GsA and 62 GdB). This distribution of G6PD genotypes did not differ significantl...

2013
Mohammad Shahjahani Yousef Mortazavi Bizhan Heli Ali Dehghanifard

LETTER TO ETITOR G6PD (Glucose-6-Phosphate Dehydrogenase) enzyme deficiency is the most common inherited enzyme deficiency so far reported. 1 This enzyme deficiency affects 400 million people worldwide. 2 Most cases of the disease are from tropical regions of Africa, the Middle East, tropical and subtropical regions of Asia and the Mediterranean margin, arise from the process of natural selecti...

2014
Arantxa Roca-Feltrer Nimol Khim Saorin Kim Sophy Chy Lydie Canier Alexandra Kerleguer Pety Tor Char Meng Chuor Sim Kheng Sovannaroth Siv Patrick S. Kachur Walter R. J. Taylor Jimee Hwang Didier Menard

BACKGROUND User-friendly, accurate, point-of-care rapid tests to detect glucose-6-phosphate dehydrogenase deficiency (G6PDd) are urgently needed at peripheral level to safely recommend primaquine for malaria elimination. METHODS The CareStart G6PD RDT (AccessBio, New Jersey, USA), a novel rapid diagnostic test and the most commonly used test, the fluorescent spot test (FST) were assessed agai...

2015
J. Kevin Baird Mewahyu Dewi Decy Subekti Iqbal Elyazar Ari W. Satyagraha

Tens of millions of patients diagnosed with vivax malaria cannot safely receive primaquine therapy against repeated attacks caused by activation of dormant liver stages called hypnozoites. Most of these patients lack access to screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency, a highly prevalent disorder causing serious acute hemolytic anemia with primaquine therapy. We optimize...

2012
Bushra Moiz Amna Nasir Sarosh Ahmed Khan Saleema Amin Kherani Maqbool Qadir

BACKGROUND There is a strong correlation between glucose-6-phosphate dehydrogenase (G6PD) deficiency and neonatal hyperbilirubinemia with a rare but potential threat of devastating acute bilirubin encephalopathy. G6PD deficiency was observed in 4-14% of hospitalized icteric neonates in Pakistan. G6PD c.563C > T is the most frequently reported variant in this population. The present study was ai...

Journal: :Genetics 1977
G Filippi A Rinaldi R Palmarino E Seravalli M Siniscalco

The distribution of four X-linked mutants (G6PD, Deutan, Protan and Xg) among lowland and once highly malarial populations of Sardinia discloses a clear-cut example of linkage disequiligrium between two of them (G6PD and Protan). In the same populations the distribution of G6PD-deficiency versus colorblindness of the Deutan type and the Xg blood-group is not significantly different from that ex...

2017
Germana Bancone Benoit Malleret Rossarin Suwanarusk Nongnud Chowwiwat Cindy S Chu Rose McGready Laurent Rénia François Nosten Bruce Russell

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder in humans and appears to be protective against falciparum severe malaria. Controversially, it is also thought that Plasmodium vivax has driven the recent selection of G6PD alleles. We use an experimental approach to determine whether G6PD-MahidolG487A variant, a widespread cause of severe G6PD deficiency i...

Journal: :British journal of haematology 2010
Mehdi Nouraie Noel S Reading Andrew Campbell Caterina P Minniti Sohail R Rana Lori Luchtman-Jones Gregory J Kato Mark T Gladwin Oswaldo L Castro Josef T Prchal Victor R Gordeuk

The genetic bases of the highly variable degrees of anaemia and haemolysis in persons with Hb SS are not fully known, but several studies have indicated that G6PD deficiency is not a factor. The G6PD(202A) and G6PD(376G) alleles and alpha-thalassaemia were determined by molecular genetic testing in 261 children and adolescents with Hb SS in a multicentre study. G6PD(202A,376G) (G6PD A-) was def...

Journal: :Blood 2002
Robin van Bruggen José M Bautista Theoni Petropoulou Martin de Boer Rob van Zwieten Felíx Gómez-Gallego Bernd H Belohradsky Nico G Hartwig David Stevens Philip J Mason Dirk Roos

In this study the blood cells of 4 male patients from 2 unrelated families with chronic nonspherocytic anemia and recurrent bacterial infections were investigated. The activity of glucose-6- phosphate dehydrogenase (G6PD) in the red blood cells and in the granulocytes of these patients was below detection level. Moreover, their granulocytes displayed a decreased respiratory burst upon activatio...

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