Results 191 to 200 of about 22,836 (233)

G6PD deficiency

JAAPA, 2019
ABSTRACT Although glucose-6-phosphate dehydrogenase (G6PD) deficiency is less known in Western countries than in the Middle East and Africa, global migration and immigration are bringing ethnic groups with the highest incidence of this inherited genetic disorder into the US healthcare system.
Susan J, Harcke, Denise, Rizzolo, H Theodore, Harcke   +2 more
openaire   +3 more sources

Incorporating G6PD genotyping to identify patients with G6PD deficiency

Pharmacogenetics and Genomics, 2021
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is a common X-linked enzyme disorder associated with hemolytic anemia after exposure to fava beans or certain medications. Activity testing is the gold standard for detecting G6PD deficiency; however, this test is affected by various hematologic parameters.
Sarah A, Morris, Kristine R, Crews, Randall T, Hayden, Clifford M, Takemoto, Wenjian, Yang, Donald K, Baker, Ulrich, Broeckel, Mary V, Relling, Cyrine E, Haidar   +8 more
openaire   +2 more sources

Molecular basis of G6PD deficiency in India

Blood Cells, Molecules, and Diseases, 2004
G6PD deficiency has been reported from India more than 30 years ago and about 13 variants have been characterized biochemically. Here, we report the results of an epidemiological study investigating G6PD deficiency and the mutations among 14 heterogenous populations of India. Of the 3166 males tested, 332 (10.5%) were found to be G6PD-deficient and the
Malay B Mukherjee, Roshan B Colah, Dipika Mohanty   +2 more
exaly   +3 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 deficiency in newborn infants

The Indian Journal of Pediatrics, 1984
Five hundred consecutive newborns were screened for erythrocytic G6PD deficiency in cord blood. The overall incidence of G6PD deficiency was found to be 2.80 percent. The incidence of G6PD deficiency was higher among males (3.77%) compared to females (1.44%).
A, Garg, B D, Bhatia, P, Chaturvedi, S, Garg   +3 more
openaire   +2 more sources

G6PD deficiency in neonates: A prospective study

Indian Journal of Pediatrics, 1990
One thousand consecutively born babies were screened for G6PD deficiency and observed for seven days for development of jaundice. Frequency of the deficiency was 3.9%, being 5% in males and 2.8% in females. Religion did not have any bearing on the frequency.
Deepak Singla
exaly   +3 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 ...
Ariella Oppenheim, T J Vulliamy, Lucio Luzzatto   +2 more
exaly   +3 more sources

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

Molecular Characterization of G6PD Deficiency in Oman

Human Heredity, 1996
Screening of unselected university students in the Sultanate of Oman revealed an overall frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency of 26% in males. Samples from 23 G6PD-deficient individuals (a random sub-sample of the student population), were characterised biochemically and at the molecular level.
S, Daar, T J, Vulliamy, J, Kaeda, P J, Mason, L, Luzzatto   +4 more
openaire   +2 more sources