Results 111 to 120 of about 638 (159)
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NONSPHEROCYTIC CONGENITAL HEMOLYTIC ANEMIA DUE TO A NEW G-6-PD VARIANT: G-6-PD ALHAMBRA
Pediatrics, 1970An 11-year-old boy was first known to have a hemolytic episode at the age of 8 years, and a diagnosis of nonspherocytic congenital hemolytic anemia due to G-6-PD deficiency was made soon after the hemolytic episode. The red cells of the patient contained a level of G-6-PD activity approximating 10 to 25% of normal.
E, Beutler, R, Rosen
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Klinische Wochenschrift, 1977
The deficient red cell enzyme glucosephosphate isomerase (GPI) was characterized in a patient of German origin who had already been described, with congenital nonspherocytic hemolytic anemia, and in his heterozygous parents. The variant enzyme differs from the known GPI variant enzyme differs from the known GPI variants by the electrophoretic mobility,
W, Schröter, W, Tillmann
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The deficient red cell enzyme glucosephosphate isomerase (GPI) was characterized in a patient of German origin who had already been described, with congenital nonspherocytic hemolytic anemia, and in his heterozygous parents. The variant enzyme differs from the known GPI variant enzyme differs from the known GPI variants by the electrophoretic mobility,
W, Schröter, W, Tillmann
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Congenital Nonspherocytic Hemolytic Anemia
American Journal of Diseases of Children, 1961It has been well demonstrated in man and in other species that the fundamental expression of a hereditary chemical disorder may be the deletion of a single metabolic or enzymic step. The extent to which such loss in enzymic activity is due to dimimished amounts or to a qualitative inefficiency of the enzyme has been a matter of considable interest. The
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Blut, 1977
GPI deficiency was detected in a three year old girl of Morrocan origin suffering, since birth, from hemolytic anemia. The defective GPI is very thermolabile and migrates on starch gel electrophoresis as a single band with a mobility of 96% of the normal main band.
H, Arnold +4 more
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GPI deficiency was detected in a three year old girl of Morrocan origin suffering, since birth, from hemolytic anemia. The defective GPI is very thermolabile and migrates on starch gel electrophoresis as a single band with a mobility of 96% of the normal main band.
H, Arnold +4 more
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Pediatrics, 1966
This paper describes a Negro family with congenital nonspherocytic hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency. All four affected males in this family showed a hemolytic anemia characterized by low hemoglobin, reticulocytosis, and jaundice.
A, Grossman +5 more
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This paper describes a Negro family with congenital nonspherocytic hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency. All four affected males in this family showed a hemolytic anemia characterized by low hemoglobin, reticulocytosis, and jaundice.
A, Grossman +5 more
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Acta Haematologica, 1982
A new variant of G6PD associated with chronic nonspherocytic hemolytic anemia (CNSHA) in a Japanese male is described. This variant is unique in that it has a normal electrophoretic mobility, normal Km for glucose-6-phosphate and NADP, and a normal utilization of the substrate 2-deoxyglucose-6-phosphate and deamino-NADP.
T, Kitao +4 more
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A new variant of G6PD associated with chronic nonspherocytic hemolytic anemia (CNSHA) in a Japanese male is described. This variant is unique in that it has a normal electrophoretic mobility, normal Km for glucose-6-phosphate and NADP, and a normal utilization of the substrate 2-deoxyglucose-6-phosphate and deamino-NADP.
T, Kitao +4 more
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The Journal of Pediatrics, 1977
4. Granoff DM, and Roskes S: Urinary tract infection due to Haemophilus influenzae type b, J PEDIATR 84:414, 1974. 5. Doolittle KH, et al: Epididymitis in the prepubertal boy, J Urol 96:364, 1966. 6. Haahr J, et al: Epididymitis in children, Acta Paediatr Scand 60:16, 248, 1971. 7.
R, Feldman +3 more
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4. Granoff DM, and Roskes S: Urinary tract infection due to Haemophilus influenzae type b, J PEDIATR 84:414, 1974. 5. Doolittle KH, et al: Epididymitis in the prepubertal boy, J Urol 96:364, 1966. 6. Haahr J, et al: Epididymitis in children, Acta Paediatr Scand 60:16, 248, 1971. 7.
R, Feldman +3 more
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[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia].
Harefuah, 1994Glucose phosphate isomerase (GPI) deficiency is an unusual cause of hereditary nonspherocytic hemolytic anemia described in Israel in 2 families of Arab ancestry. The disease, inherited as an autosomal recessive disorder, manifests itself by symptoms and signs of chronic hemolysis which are often ameliorated by splenectomy.
O, Shalev, G, Leibowitz, F, Brok-Simoni
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Vox Sanguinis, 1982
Abstract. A glucose‐6‐phosphate dehydrogenase (G6PD) variant was studied in a mulatto patient with chronic nonspherocytic hemolytic anemia. This variant has reduced activity, increased thermolability, a reduced Michaelis constant for glucose‐6‐phosphate, slightly increased electrophoretic mobility, a biphasic pH activity profile, high 2‐deoxy‐glucose ...
M, Estrada +4 more
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Abstract. A glucose‐6‐phosphate dehydrogenase (G6PD) variant was studied in a mulatto patient with chronic nonspherocytic hemolytic anemia. This variant has reduced activity, increased thermolability, a reduced Michaelis constant for glucose‐6‐phosphate, slightly increased electrophoretic mobility, a biphasic pH activity profile, high 2‐deoxy‐glucose ...
M, Estrada +4 more
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Hemoglobin, 2019
In this study, we report on a compound heterozygote for variants in the key erythroid transcription factor Krüppel-like factor 1 (KLF1) gene in a patient who presented with severe, transfusion-dependent hemolytic anemia. The red cells were normochromic and normocytic, and resembled those seen in patients with congenital nonspherocytic hemolytic anemia (
Hua, Jiang +4 more
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In this study, we report on a compound heterozygote for variants in the key erythroid transcription factor Krüppel-like factor 1 (KLF1) gene in a patient who presented with severe, transfusion-dependent hemolytic anemia. The red cells were normochromic and normocytic, and resembled those seen in patients with congenital nonspherocytic hemolytic anemia (
Hua, Jiang +4 more
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