Results 201 to 210 of about 42,097 (242)

Both mutations in G6PD A — are necessary to produce the G6PD deficient phenotype

Human Molecular Genetics, 1992
The high prevalence of glucose 6-phosphate dehydrogenase (G6PD) deficiency in African populations is due almost entirely to the enzyme variant A-, which differs from the wild-type G6PD B by two amino acid replacements, 68 Val-->Met and 126 Asn-->Asp. The non-deficient polymorphic variant G6PD A contains only the mutation 126 Asn-->Asp.
M, Town, J M, Bautista, P J, Mason, L, Luzzatto   +3 more
openaire   +2 more sources

G6PD Avenches and G6PD Moosburg: biochemical and erythrocyte membrane characterization

Blut, 1989
Two new G6PD variants with severe enzyme deficiency in Switzerland (G6PD Avenches, G6PD I) and in Germany (G6PD Moosburg, G6PD II) are described. One patient had suffered from severe postpartal hyperbilirubinemia, the other one presented with chronic hemolysis and remittent hyperbilirubinemia.
A, Pekrun, S W, Eber, W, Schröter
openaire   +2 more sources

Two distinct Indian G6PD variants G6PD Jamnagar and G6PD Rohini caused by the same 949 G→A mutation

Blood Cells, Molecules, and Diseases, 2005
Earlier we have reported two G6PD variants viz.; G6PD Jamnagar and G6PD Rohini. The enzymes from both the variants showed altered biochemical properties with mild enzyme deficiency and were classified as unique Class III variants. G6PD Jamnagar was found to be associated with drug-induced hemolytic anemia whereas G6PD Rohini was picked up during a ...
Sridevi, Sukumar, Malay B, Mukherjee, Roshan B, Colah, Dipika, Mohanty   +3 more
openaire   +2 more sources

G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews

Human Genetics, 1993
The Jews of Kurdistan are a small inbred population with a high incidence of beta-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Recently, it was reported that the beta-thalassaemia in this population shows an unusual mutational diversity; 13 different mutations were identified, of which 4 had not previously been observed in any ...
A, Oppenheim, C L, Jury, D, Rund, T J, Vulliamy, L, Luzzatto   +4 more
openaire   +2 more sources

G6PD Viangchan and G6PD Mediterranean are the main variants in G6PD deficiency in the Malay population of Malaysia.

The Southeast Asian journal of tropical medicine and public health, 2005
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked red blood cell enzymopathy common in malaria endemic areas. Individuals affected by this disease show a wide variety of clinical signs of acute hemolytic anemia. Mutations of the G6PD gene in the Malay population with G6PD deficiency in Kelantan, a state in North East Malaysia were ...
Narazah Mohd, Yusoff, Taku, Shirakawa, Kaoro, Nishiyama, Choo Keng, Ee, Mohd Nizam, Isa, Masafumi, Matsuo   +5 more
openaire   +1 more source

Pharmacokinetics of primaquine in G6PD deficient and G6PD normal patients with vivax malaria

Transactions of the Royal Society of Tropical Medicine and Hygiene, 1994
The pharmacokinetics of primaquine have been studied in 13 G6PD normal and 13 G6PD deficient Thai male patients with Plasmodium vivax malaria who were given daily doses of 15 mg of primaquine over 14 d, following a full course of chloroquine. After the first dose (15 mg), primaquine underwent rapid absorption. Mean values (SD in parentheses) of maximum
K N, Bangchang, W, Songsaeng, A, Thanavibul, P, Choroenlarp, J, Karbwang   +4 more
openaire   +2 more sources

G6PD deficiency in senile cataracts

Human Genetics, 1980
The incidence of G6PD deficiency among 338 Thai males with senile cataracts was 5.92% while 446 control Thai males gave an incidence of 6.95%. The figures in females were 16.29% and 14% among 201 senile cataracts females and 200 control females respectively.
V, Panich, S, Na-Nakorn
openaire   +2 more sources

G6PD Deficiency and Breast Cancer

Tumori Journal, 1988
A study of the relative 2dG6P utilization in mononuclear cells from a group of 150 women with breast cancer was undertaken to evaluate a possible negative correlation between G6PD deficiency and cancer, as suggested by some authors. Twenty-one women (14.00 %) were heterozygotes and 2 were homozygotes (1.33 %).
G, Forteleoni, L, Argiolas, A, Farris, A M, Ferraris, G F, Gaetani, T, Meloni   +5 more
openaire   +2 more sources

G6PD Toronto

Biochemical Genetics, 1973
J H, Crookston, A, Yoshida, M, Lin, D J, Booser   +3 more
openaire   +2 more sources

Recent findings in the regulation of G6PD and its role in diseases

Frontiers in Pharmacology, 2022
Qingfei Meng, Huihui Sun, Yishu Wang
exaly