Results 71 to 80 of about 459 (116)
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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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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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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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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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[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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Congenital nonspherocytic hemolytic anemia
The Journal of Pediatrics, 1956W. Krivit +4 more
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[Pyrimidine 5'-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia].
Deutsche medizinische Wochenschrift (1946), 1993An 11-year-old girl had marked haemolytic anaemia since the first year of life. Physical examination revealed scleral and cutaneous icterus and slight splenomegaly. Haemoglobin concentration was reduced to 9.5 g/dl, while platelet count and bilirubin concentration were increased (350,000/microliter and 2.2 mg/dl, respectively).
A, Pekrun +3 more
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Congenital Nonspherocytic Hemolytic Anemia: Report of Two Cases
American Journal of Clinical Pathology, 1962J L, LIPIN, H J, SACKS, J H, DANIESL
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