نتایج جستجو برای: کمبود آنزیم g6pd

تعداد نتایج: 25849  

2013
IZ Isaac AS Mainasara Osaro Erhabor ST Omojuyigbe MK Dallatu LS Bilbis TC Adias

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human enzyme deficiencies in the world. It is particularly common in populations living in malaria-endemic areas, affecting more than 400 million people worldwide. This present study was conducted with the aim of determining the prevalence of G6PD deficiency among children visiting the Emergency Paediatric Unit of Usm...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1988
A Hirono E Beutler

Glucose-6-phosphate dehydrogenase (G6PD; D-glucose-6-phosphate:NADP+ oxidoreductase, EC 1.1.1.49) A(-) is a common variant in Blacks that causes sensitivity to drug-and infection-induced hemolytic anemia. A cDNA library was constructed from Epstein-Barr virus-transformed lymphoblastoid cells from a male who was G6PD A(-). One of four cDNA clones isolated contained a sequence not found in the ot...

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: : 2023

Thiếu Glucose-6-phosphatase dehydrogenase (OMIM 305900) là bệnh lý thiếu hụt enzyme di truyền phổ biến nhất với số lượng mắc trên toàn thế giới ước tính khoảng 500 triệu người. Bệnh lặn đơn gen nhiễm sắc thể X, gây ra bởi đột G6PD (Xq28), chịu trách nhiệm mã hoá tổng hợp - enzym có vai trò xúc tác cho phản ứng đầu tiên trong chu trình pentose phosphate, NADPH – một chất đóng đặc biệt quan trọng...

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)(...

Journal: :Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 1998
A A Leite O C Barretto

Glucose-6-phosphate dehydrogenase (G6PD) activity and the affinity for its substrate glucose-6-phosphate were investigated under conditions similar to the physiological environment in terms of ionic strength (I: 0.188), cation concentration, pH 7.34, and temperature (37 degrees C). A 12.4, 10.4 and 21.4% decrease was observed in G6PD B, G6PD A+ and G6PD A- activities, respectively. A Km increas...

Journal: :International journal of laboratory hematology 2011
V Nadarajan H Shanmugam P Sthaneshwar S Jayaranee K S Sultan C Ang S Arumugam

INTRODUCTION The glucose-6-phosphate dehydrogenase (G6PD) fluorescent spot test (FST) is a useful screening test for G6PD deficiency, but is unable to detect heterozygote G6PD-deficient females. We sought to identify whether reporting intermediate fluorescence in addition to absent and bright fluorescence on FST would improve identification of mildly deficient female heterozygotes. METHODS A ...

Journal: :Diabetes 2016
Mira Ham Sung Sik Choe Kyung Cheul Shin Goun Choi Ji-Won Kim Jung-Ran Noh Yong-Hoon Kim Je-Won Ryu Kun-Ho Yoon Chul-Ho Lee Jae Bum Kim

Glucose-6-phosphate dehydrogenase (G6PD), a rate-limiting enzyme of the pentose phosphate pathway, plays important roles in redox regulation and de novo lipogenesis. It was recently demonstrated that aberrant upregulation of G6PD in obese adipose tissue mediates insulin resistance as a result of imbalanced energy metabolism and oxidative stress. It remains elusive, however, whether inhibition o...

Journal: :Archives of disease in childhood. Fetal and neonatal edition 2004
O Mesner C Hammerman D Goldschmidt B Rudensky D Bader M Kaplan

BACKGROUND Glucose-6-phosphate dehydrogenase (G6PD) activity is higher in term neonates than in adults. Some studies have suggested that activity may be even higher in preterm infants. OBJECTIVES To determine if G6PD activity is higher in preterm than term neonates, and whether higher activity would interfere with diagnosis of G6PD deficiency in premature infants. METHODS G6PD activity was ...

2012
Bassam MS Al-Musawi Nasir Al-Allawi Ban A Abdul-Majeed Adil A Eissa Jaladet MS Jubrael Hanan Hamamy

BACKGROUND Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. METHODS A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center...

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