نتایج جستجو برای: g6pd deficiency

تعداد نتایج: 137946  

Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD) or fauvism is the most common enzyme deficiency in human, so that 400 million people are living with this disease worldwide. This study aimed to investigate the role of some neonatal factors among newborns suffering from G6PD deficiency and neonatal outcomes associated with this disease. Materials and methods: In this study, two...

Journal: :Singapore medical journal 2012
Wing-Yan Au S C Chan

Due to contaminated food sources from China, hepatitis E virus (HEV) has become the leading cause of acute oral-faecal transmitted hepatitis in Hong Kong. Notification of incidence is required by law. From 2001 to 2010, a total of 525 cases were reported to the Department of Health. Of these, 352 were men and 173 were women, with a male to female ratio of 2:1. The median age of the patients was...

Journal: :Anesthesia progress 2009
Ali R Elyassi Henry H Rowshan

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected by this deficiency. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway, leading to antioxidants that protect cells against oxidative damage. A G6PD-deficient patient, therefore, lacks the ability...

2011
Seyed Reza Kazemi Nezhad Fatemeh Fahmi Saeid Reza Khatami Mohsen Musaviun

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 . Therefore in the present stu...

2016
Neda M. Bogari

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known for different ethnicities. Known single nucleotide polymorphism (SNP) associated with G6PD is avail...

Journal: :Haematologica 2007
Licínio Manco Paula Gonçalves Patrícia Antunes Filomena Maduro Augusto Abade M Letícia Ribeiro

G6PD deficiency mutational profile and haplotype diversity using 6 RFLPs (FokI/PvuII/BspHI/PstI/BclI/NlaIII) and a (CTT)(n) microsatellite, were investigated in 70 G6PD-deficient Portuguese individuals. All but one G6PD A-(376G/202A) variants (44/45) have a single haplotype (+/+/-/+/-/+/195). G6PD Betica(376G/968C) alleles (n=10) have a single RFLP haplotype (+/-/-/+/-/+) and 4 different (CTT)(...

Glucose 6-phoshphate dehydrogenase is X-chromosome linked that expressed in all tissues. This is the first enzyme of pentose phosphate pathway were 5-carbon sugar Ribose and NADPH were synthesized by coupled oxidation /reduction reactions and this enzyme is a highly polymorphic enzyme in humans. G6PD deficiency are shown to be the cause of haemolytic effect of Fava beans and primaquine. It soon...

2017
Tzu-Ling Chen Hung-Chi Yang Cheng-Yu Hung Meng-Hsin Ou Yi-Yun Pan Mei-Ling Cheng Arnold Stern Szecheng J Lo Daniel Tsun-Yee Chiu

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a commonly pervasive inherited disease in many parts of the world. The complete lack of G6PD activity in a mouse model causes embryonic lethality. The G6PD-deficient Caenorhabditis elegans model also shows embryonic death as indicated by a severe hatching defect. Although increased oxidative stress has been implicated in both cases as the u...

Journal: :Blood 1991
M D Scott L Zuo B H Lubin D T Chiu

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is characterized by the loss of NADPH and enhanced erythrocyte oxidant sensitivity. Historically, it has been theorized that the elevated oxidant sensitivity of G6PD-deficient erythrocytes arises as the direct consequence of decreased intracellular glutathione (GSH) concentrations. To directly investigate the basis of G6PD deficiency oxidant s...

Journal: :Acta medica Okayama 2010
Indah S Tantular Hiroyuki Matsuoka Yuichi Kasahara Suhintam Pusarawati Toshio Kanbe Josef S B Tuda Yasutoshi Kido Yoes P Dachlan Fumihiko Kawamoto

We conducted a field survey of glucose-6-phosphate dehydrogenese (G6PD) deficiency in the eastern Indonesian islands, and analyzed G6PD variants molecularly. The incidence of G6PD deficiency in 5 ethnic groups (Manggarai, Bajawa, Nage-Keo, Larantuka, and Palue) on the Flores and Palue Islands was lower than that of another native group, Sikka, or a nonnative group, Riung. Molecular analysis of ...

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