نتایج جستجو برای: glucosephosphate dehydrogenase deficiency

تعداد نتایج: 199743  

Journal: :British medical journal 1976
A M Afifi M Adnan A A El Garf

Thirty adults with proved typhoid fever were treated with amoxycillin 1 g six-hourly by mouth for an average of 14 days because of haematological contraindications to chloramphenicol. Eighteen patients were Egyptian men with the Mediterranean variety of glucose-6-phosphate dehydrogenase deficiency and an enzyme activity in the red cells fanging from 0 to 3%, and 12 patients had a history of sev...

Journal: :Blood cells, molecules & diseases 2002
Maria-Odete Rodrigues Ana Ponces Freire Gisela Martins Júlia Pereira Maria-do-Carmo Martins Carolino Monteiro

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. This deficiency in erythrocytes has a prevalence of 0.51 +/- 0.109 in the Caucasoid male population of Portugal. The frequency for deficiency-conferring genes is 0.39% in the Portuguese population. In the herein study populations males from areas of Portugal presenting with the highest prevalence of G6PD d...

Journal: :Blood 1997
A Hirono H Fujii T Takano Y Chiba Y Azuno S Miwa

We analyzed the molecular mutations of eight known Japanese glucose-6-phosphate dehydrogenase (G6PD) variants with unique biochemical properties. Three of them were caused by novel missense mutations: G6PD Musashino by 185 C-->T, G6PD Asahikawa by 695 G-->A, and G6PD Kamiube by 1387 C-->T. Predicted amino acid substitutions causing asymptomatic variants G6PD Musashino (62 Pro-->Phe) and G6PD Ka...

2015
Maria Kahn Walter H. J. Ward Nicole LaRue Michael Kalnoky Sampa Pal Gonzalo J. Domingo

Cytochemical staining remains an efficient way of identifying females who are heterozygous for the X chromosome-linked glucose-6-phosphate dehydrogenase (G6PD) gene. G6PD is highly polymorphic with certain alleles resulting in low intracellular G6PD activity in red blood cells. Low intracellular G6PD activity is associated with a risk of severe hemolysis when exposed to an oxidative stress such...

2017
Qiao Wan Shuilian Chen Zhihui Shan Zhonglu Yang Limiao Chen Chanjuan Zhang Songli Yuan Qinnan Hao Xiaojuan Zhang Dezhen Qiu Haifeng Chen Xinan Zhou

Real-time quantitative reverse transcription PCR is a sensitive and widely used technique to quantify gene expression. To achieve a reliable result, appropriate reference genes are highly required for normalization of transcripts in different samples. In this study, 9 previously published reference genes (60S, Fbox, ELF1A, ELF1B, ACT11, TUA5, UBC4, G6PD, CYP2) of soybean [Glycine max (L.) Merr....

2013
Dumbala Srinivas Reddy Pooja Bhatnagar-Mathur Katamreddy Sri Cindhuri Kiran K. Sharma

The quantitative real-time PCR (qPCR) based techniques have become essential for gene expression studies and high-throughput molecular characterization of transgenic events. Normalizing to reference gene in relative quantification make results from qPCR more reliable when compared to absolute quantification, but requires robust reference genes. Since, ideal reference gene should be species spec...

2009
Raimundo Antonio G. Oliveira Marilena Oshiro Mario H. Hirata Rosario D. C. Hirata Georgina S. Ribeiro Tereza M. D. Medeiros Orlando C. de O. Barretto

In this study, we used red cell glucose-6-phosphate dehydrogenase (G6PD) activity to screen for G6PD-deficient individuals in 373 unrelated asymptomatic adult men who were working with insecticides (organophosphorus and carbamate) in dengue prevention programs in 27 cities in São Paulo State, Brazil. Twenty-one unrelated male children suspected of having erythroenzymopathy who were attended at ...

Journal: :Journal of medical genetics 1993
J M White B S Christie D Nam S Daar D R Higgs

The frequencies of four malaria associated erythrocyte genetic abnormalities have been established in 1000 Omani subjects. They are: homozygous alpha+ thalassaemia (-alpha/-alpha) 0.45; high Hb A2 beta thalassaemia trait 0.015; sickle trait (Hb A/S) 0.061; and glucose 6 phosphate dehydrogenase deficiency (Gd-): males 0.27, females 0.11. From our data the alpha+ (-alpha/) thal gene (confirmed by...

Journal: :Journal of medical genetics 1971
T K Chan M C Lai

Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disorder (Browne, 1957). According to Gross, Hurwitz, and Marks (1958) males who are hemizygous for this disorder have low enzyme levels which vary from 0 to 20% of normal, and haemolysis occurs in association with exposure to certain drugs or illness. On the other hand, heterozygous females have intermedi...

2012

Background: Glucose-6-Phosphate dehydrogenase (G6PD) deficiency is an Xlinked recessive disorder expressed mostly in males. Prevalence of G6PD deficiency varies in different parts of the world’s according to ethnic variation. The incidence varies among different countries in the world and surveys report rates of less than 1% to 35%. The prevalence of G6PD deficiency in the Arab world has variou...

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