When Fever Turns Hemorrhagic in the Maldives: A Case Report of Dengue in a G6PD-Deficient Young Adult With Hemolysis and Rhabdomyolysis. [PDF]
Dey R +8 more
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No G6PD A- (G202A) variant detected among <i>Plasmodium falciparum</i>-positive patients in Awka, Southeast Nigeria: a hospital-based study. [PDF]
Ikegbunam M +10 more
europepmc +1 more source
Severe Anemia and Acute Kidney Injury After Pegloticase in a Patient With Glucose-6-Phosphate Dehydrogenase Deficiency. [PDF]
Zainab N +6 more
europepmc +1 more source
Association between G6PD gene variants and adverse pregnancy outcomes. [PDF]
Guo D +8 more
europepmc +1 more source
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Incorporating G6PD genotyping to identify patients with G6PD deficiency
Pharmacogenetics and Genomics, 2021Glucose-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 +8 more
openaire +2 more sources
Definition of the Mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD ‘Lejeune’
Acta Haematologica, 2009We report the nucleotide (nt) substitutions of four unrelated glucose-6-phosphate dehydrogenase (G6PD)-deficient males. Only the mutation of G6PD Wayne was unique. It was a nt 769 C→G substitution causing a deduced substitution of glycine for arginine at amino acid 257.
E, Beutler, B, Westwood, W, Kuhl
openaire +2 more sources
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 +2 more
openaire +3 more sources
Three new G6PD variants, G6PD Adana, G6PD Samanda?, and G6PD Balcali in �ukurova, Turkey
Human Genetics, 1987Glucose-6-phosphate dehydrogenase (G6PD) enzyme from cases known to be completely or mildly deficient were analyzed. The enzymes were purified from blood samples by utilizing DEAE-52 cellulose pH 7.0 column chromatography and ammonium sulphate precipitation.
Aksoy K. +3 more
openaire +2 more sources
G6PD Murcia, G6PD Ube and G6PD Orissa: Report of three G6PD mutations unusual for Italian population
Clinical Biochemistry, 2010No ...
Minucci, Angelo +4 more
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Characterization of a New G6PD Variant: G6PD Titusville
The American Journal of the Medical Sciences, 1989We describe a new glucose-6-phosphate dehydrogenase mutant, G-6-PD Titusville. The propositus is a 7-month-old black male infant with a transient hemolytic episode. The mutant enzyme is characterized by abnormal electrophoretic mobility, thermolability, Km for NADP, abnormal deamino NADP use and a decreased sensitivity to inhibition by NADPH.
M, Csepreghy +4 more
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