نتایج جستجو برای: نقص در عملکرد آنزیم g6pd

تعداد نتایج: 761102  

Journal: :Pediatrics 2015
Vinod K Bhutani Michael Kaplan Bertil Glader Michael Cotten Jairus Kleinert Vamsee Pamula

BACKGROUND AND OBJECTIVES Widespread newborn screening on a point-of-care basis could prevent bilirubin neurotoxicity in newborns with glucose-6-phosphate dehydrogenase (G6PD) deficiency. We evaluated a quantitative G6PD assay on a digital microfluidic platform by comparing its performance with standard clinical methods. METHODS G6PD activity was measured quantitatively by using digital micro...

Journal: :Circulation 2004
Mohit Jain Lei Cui Daniel A Brenner Bo Wang Diane E Handy Jane A Leopold Joseph Loscalzo Carl S Apstein Ronglih Liao

BACKGROUND Free radical injury contributes to cardiac dysfunction during ischemia-reperfusion. Detoxification of free radicals requires maintenance of reduced glutathione (GSH) by NADPH. The principal mechanism responsible for generating NADPH and maintaining GSH during periods of myocardial ischemia-reperfusion remains unknown. Glucose-6-phosphate dehydrogenase (G6PD), the rate-limiting enzyme...

2017
Qiao Zhang Xiaojia Yi Zhe Yang Qiaoqiao Han Xuesong Di Fufei Chen Yanling Wang Zihan Yi Yingmin Kuang Yuechun Zhu

Glucose-6-phosphate dehydrogenase (G6PD) participates in glucose metabolism and it acts as the rate-limiting enzyme of the pentose phosphate pathway (PPP). Recently, G6PD dysregulation has been found in a variety of human cancers. Through analyzing published data in The Cancer Genome Atlas (TCGA), our pilot study indicated that G6PD mRNA expression was significantly higher in advanced Fuhrman g...

Journal: :Acta medica Okayama 2007
Hiroyuki Matsuoka Dang Thi Vinh Thuan Huynh van Thien Toshio Kanbe Amadu Jalloh Makoto Hirai Meiji Arai Nguyen The Dung Fumihiko Kawamoto

We conducted a survey for glucose-6-phosphate dehydrogenase (G6PD) deficiency using blood samples from male outpatients of a local hospital in southern Vietnam. Most of the samples were from the Kinh (88.9%), the largest ethnic group in Vietnam, with a small number (11.1%) coming from the K'Ho, Chauma, Nung, and Tay minorities. We detected 25 G6PD-deficient cases among 1,104 samples (2.3%), and...

Journal: :Nederlands militair geneeskundig tijdschrift 1963
M D Cappellini G Fiorelli

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. G6PD deficiency is an X-linked, hereditary genetic defect due to mutations in the G6PD gene, which ca...

2012
Anthony D. Heymann Yossi Cohen Gabriel Chodick

G lucose-6-phosphate dehydrogenase (G6PD) deficiency is a common Xlinked human enzyme defect (1). There are a few reports that link G6PD deficiency to diabetes (2–4). We undertook a cross-sectional study at Maccabi Healthcare Services, an Israeli HMO serving two million members. All interactions and information are captured on an electronic medical record. Our study population included all male...

2009
Marla K. Johnson Tamara D. Clark Denise Njama-Meya Philip J. Rosenthal Sunil Parikh

BACKGROUND Clinical association studies have yielded varied results regarding the impact of glucose-6-phosphate dehydrogenase (G6PD) deficiency upon susceptibility to malaria. Analyses have been complicated by varied methods used to diagnose G6PD deficiency. METHODOLOGY/PRINCIPAL FINDINGS We compared the association between uncomplicated malaria incidence and G6PD deficiency in a cohort of 60...

Journal: :EXCLI journal 2016
Norunaluwar Jalil Raja Zahratul Azma Emida Mohamed Azlin Ithnin Hafiza Alauddin Siti Noor Baya Ainoon Othman

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the commonest cause of neonatal jaundice in Malaysia. Recently, OSMMR2000-D G6PD Assay Kit has been introduced to quantitate the level of G6PD activity in newborns delivered in Universiti Kebangsaan Malaysia Medical Centre (UKMMC). As duration of sample storage prior to analysis is one of the matters of concern, this study was conducted to ...

ژورنال: :پژوهش های آسیب شناسی زیستی 0
amir salek farrokhi ph.d. candidate, department of immunology, faculty of medical sciences, tarbiat modares university, tehran, iran asghar aghamohammadi professor, research center for immunodeficiencies, pediatrics center of excellence, children’s medical center, tehran university of medical sciences, tehran, iran seyed mohammad moazzeni professor, department of immunology, faculty of medical sciences, tarbiat modares university, tehran, iran

هدف: نقص ایمنی شایع متغیر شامل انواعی از اختلالات هتروژن سیستم ایمنی بوده که توسط نقص‏های ژنتیکی مختلف ایجاد می‏شود. آنزیم سیتیدین دی‏آمیناز القا شونده در پدیده تعویض کلاس و بروز جهش‏های سوماتیک در مرکز زایا نقش دارد؛ از این رو به منظور روشن شدن نقش احتمالی اختلال در بیان ژن آنزیم سیتیدین دی‏آمیناز در بیماری زایی نقص ایمنی شایع متغیر، بیان این ژن در افراد مبتلا بررسی شد. مواد و روش‏ها: سلول‏های...

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