نتایج جستجو برای: g6pd

تعداد نتایج: 1924  

2005
A. Morelli U. Benatti L. Lenzerini B. Sparatore F. S. Pontremoli A. De Flora

T HE MEDITERRANEAN variety of glucose-6phosphate dehydrogenase (G6PD) deficiency is characterized by severely decreased catalytic activity in the affected erythrocytes and is therefore classified as belonging to class II in the usual tabulations of G6PD variants.’ However, evidence has been provided that in Mediterranean countries there are several polymorphic G6PD variants sharing activity lev...

Journal: :Archives of disease in childhood 1981
K L Tan

Neonatal jaundice and its relationship to glucose-6-phosphate dehydrogenase (G6PD) status of healthy, term Chinese infants was evaluated in 220 G6PD-deficient infants, 26 intermediate infants who were observed for 3 weeks, and 116 normal (control) infants. Each infant was free of isoimmunisation, cephalhaematomas, or contusions. The mode of labour, method of delivery, and type of feeds had no a...

Journal: :Blood 1993
D T Chiu L Zuo L Chao E Chen E Louie B Lubin T Z Liu C S Du

The underlying DNA changes associated with glucose-6-phosphate dehydrogenase (G6PD)-deficient Asians have not been extensively investigated. To fill this gap, we sequenced the G6PD gene of 43 G6PD-deficient Chinese whose G6PD was well characterized biochemically. DNA samples were obtained from peripheral blood of these individuals for sequencing using a direct polymerase chain reaction (PCR) se...

2016
Pradeep Kumar Upendra Yadav Vandana Rai

G6PD deficiency; Hemolytic anemia; Meta-analysis; Prevalence Abstract Background: Glucose-6-phosphate dehydrogenase (G6PD) is a house keeping enzyme which catalyzes the first step in the hexose monophosphate pathway of glucose metabolism. G6PD deficiency is the commonest hemolytic X-linked genetic disease, which affects approximately 400 million people worldwide. The prevalence rate of G6PD def...

Journal: :Blood 2000
A Rovira M De Angioletti O Camacho-Vanegas D Liu V Rosti H F Gallardo R Notaro M Sadelain L Luzzatto

Many mutations of the housekeeping gene encoding glucose-6-phosphate dehydrogenase (G6PD) cause G6PD deficiency in humans. Some underlie severe forms of chronic nonspherocytic hemolytic anemia (CNSHA) for which there is no definitive treatment. By using retroviral vectors pseudotyped with the vesicular stomatitis virus G glycoprotein that harbor the human G6PD (hG6PD) complementary DNA, stable ...

2015
Anet Papazovska Cherepnalkovski Tatijana Zemunik Sofijanka Glamocanin Katica Piperkova Ivana Gunjaca Svetlana Kocheva Biljana Coneska Jovanova Vjekoslav Krzelj

INTRODUCTION Glucose-6-phospahte dehydrogenase deficiency (G6PD) is one of the most common inherited disorders affecting around 400 million people worldwide. Molecular analysis of the G6PD gene identified more than 140 distinct mutations, the majority being single base missense mutations. G6PD Mediterranean is the most common variant found in populations of the Mediterranean area. AIM The aim...

2016
Saúl Gómez-Manzo Jaime Marcial-Quino America Vanoye-Carlo Hugo Serrano-Posada Abigail González-Valdez Víctor Martínez-Rosas Beatriz Hernández-Ochoa Edgar Sierra-Palacios Rosa Angélica Castillo-Rodríguez Miguel Cuevas-Cruz Eduardo Rodríguez-Bustamante Roberto Arreguin-Espinosa

Glucose-6-phosphate dehydrogenase (G6PD) deficiency in humans causes severe disease, varying from mostly asymptomatic individuals to patients showing neonatal jaundice, acute hemolysis episodes or chronic nonspherocytic hemolytic anemia. In order to understand the effect of the mutations in G6PD gene function and its relation with G6PD deficiency severity, we report the construction, cloning an...

2004
LAWRENCE S. GREENE

Several recent reviews in the medical literature maintain that only heterozygous G6PD deficient females are relatively protected against falciparum malaria. However, a number of population studies pro-vide compelling evidence that both the hemizygous G6PD deficient male and homozygous G6PD deficient female are also relatively protected against falciparum parasitization. An epidemiologic critiqu...

2013
Yi-Ting Hsieh Mei-Hui Lin Hung-Yao Ho Lei-Chin Chen Chien-Cheng Chen Jwu-Ching Shu

Glucose-6-phosphate dehydrogenase (G6PD) is a key enzyme in the pentose phosphate pathway and provides reducing energy to all cells by maintaining redox balance. The most common clinical manifestations in patients with G6PD deficiency are neonatal jaundice and acute hemolytic anemia. The effects of microbial infection in patients with G6PD deficiency primarily relate to the hemolytic anemia cau...

2007
Mohan Reddy

G6PD deficiency is a common hemolytic genetic disorder, particularly in the areas endemic to malaria. Individuals are generally asymptomatic and hemolytic anemia occurs when some anti-malarial drugs or other oxidizing chemicals are administered. It has been proposed that G6PD deficiency provides protection against malaria. Maintaining of G6PD deficient alleles at polymorphic proportions is comp...

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