Results 71 to 80 of about 22,541 (119)

Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand. [PDF]

Pharmacol Res Perspect
Pengsuk N, Chamchoy K, Duangdee C, Satayarak J, Saralamba N, Nguitragool W, Boonyuen U.   +6 more
europepmc   +1 more source

Acute hemolytic crisis complicated with ischemic cardiac injury and methemoglobinaemia following ingestion of naphthalene: a case report. [PDF]

J Med Case Rep
Dayasiri K, Pathiraja H, Thadchanamoorthy V.   +2 more
europepmc   +1 more source

Severe Haemolysis in Patients with Glucose-6-Phosphate Dehydrogenase Deficiency Secondary to Dengue Fever: <i>Analysis of 3 cases from Oman</i>. [PDF]

Sultan Qaboos Univ Med J
Gokhale A, Al Khalili H, Al Abri M.
europepmc   +1 more source

G6PD deficiency in Malaysia's Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study. [PDF]

PLoS One
Zailani MAH, Raja Sabudin RZA, Abdullah-Zawawi MR, Ithnin A, Alauddin H, Sulaiman SA, Ayub NA, Awai Albert R, Jamaludin MDA, Mohd Zapri MZ, Othman A.   +10 more
europepmc   +1 more source

Economic evaluation of quantitative point-of-care testing versus spectrophotometric assay for population screening of glucose-6-phosphate dehydrogenase deficiency in Malaysia: A time-driven activity-based cost analysis. [PDF]

Medicine (Baltimore)
Zailani MAH, Raja Sabudin RZA, Ismail A, Basri MB, Ithnin A, Alauddin H, Sulaiman SA, Othman A.   +7 more
europepmc   +1 more source

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening. [PDF]

PLoS One
Tan M, Liu X, Zhang Y, Yin Y, Chen T, Li Y, Feng L, Zhu B, Xu C, Tang C, Sun M, Jia L, Jin W, Fan C, Huang H, Wang X, Feng J, Zou H, Han L, Miao J, Zhu B, Huang C, Huang Y.   +22 more
europepmc   +1 more source

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Combined Glucosephosphate Isomerase and Glucose‐6‐Phosphate Dehydrogenase Deficiency of the Erythrocytes: A New Haemolytic Syndrome

British Journal of Haematology, 1971
Summary. A new haemolytic syndrome associated with the combination of genetically determined glucosephosphate isomerase and glucose‐6‐phosphate dehydrogenase deficiency of the erythrocytes was demonstrated in a German family. The propositus (a male), homozygous for the glucosephosphate isomerase deficiency and hemizygous for the glucose‐6‐phosphate ...
W, Schröter, G, Brittinger, E, Zimmerschmitt, E, König, D, Schrader   +4 more
exaly   +5 more sources

Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome

Blood Cells, Molecules, and Diseases, 2003
Glucosephosphate isomerase (GPI) deficiency in humans is an autosomal recessive disorder, which results in nonspherocytic hemolytic anemia of variable clinical expression. A 4-year-old female with severe congenital hemolytic anemia had low red cell GPI activity of 15.5 IU/g Hb (50% of normal mean) indicating GPI deficiency.
Julia L, Clarke, Tom J, Vulliamy, David, Roper, Seyed A, Mesbah-Namin, Barbara J, Wild, James I, Walker, Andrew M, Will, Paula H, Bolton-Maggs, Philip J, Mason, D Mark, Layton   +9 more
exaly   +5 more sources

Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an italian family

Human Genetics, 1981
A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined deficiency of these two enzymes ...
H, Arnold, G W, Löhr, K, Hasslinger, R, Ludwig   +3 more
exaly   +5 more sources

Chronic myelomonocytic leukemia associated with hereditary pyruvate kinase deficiency and multiple acquired erythrocyte abnormalities.

Acta Haematologica, 1979
Vives-Corrons Jl, Lourdes Florensa, Josep Muncunill, B. Nomdedeu, Ciril Rozman   +4 more
semanticscholar   +1 more source