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Anemia, Hemolytic, Congenital Nonspherocytic

Known as: Anemia, Hemolytic, Congenital Nonspherocytic [Disease/Finding], Hemolytic Anemia, Congenital Nonspherocytic, Congenital nonspherocytic hemolytic anemia 
Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of… 
National Institutes of Health

Related topics

Related topics

11 relations

Broader (1)

Anemia, Hemolytic, Congenital

Narrower (3)

Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin MetabolismDeficiency of pyruvate kinaseTriosephosphate Isomerase Deficiency
In BloodMicrobiologicalTriose-Phosphate Isomerasechemically induced

Papers overview

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Highly Cited
2001
Highly Cited
2001
Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia.
Human erythrocyte pyruvate kinase plays an important role in erythrocyte metabolism. Mutation on the gene results in pyruvate… 
Highly Cited
2000
Highly Cited
2000
The Allosteric Regulation of Pyruvate Kinase
Pyruvate kinase (PK) is critical for the regulation of the glycolytic pathway. The regulatory properties ofEscherichia coli were… 
Review
1998
Review
1998
Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.
Erythrocyte pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. We present 6… 
Highly Cited
1997
Highly Cited
1997
Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.
We investigated the DNA of 29 unrelated pyruvate kinase (PK) deficiency (PKD) patients from Central Europe with hereditary… 
1997
1997
Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).
Five unrelated patients with hereditary glucosephosphate isomerase (GPI) deficiency resulting in nonspherocytic hemolytic anemia… 
Highly Cited
1982
Highly Cited
1982
Severe-glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dysfunction, and increased susceptibility to infections: description of a new…
Molecular, kinetic, and functional studies were carried out on erythrocytes and leukocytes in a Spanish male with G6PD deficiency… 
Review
1962
Review
1962
Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia.
LTHOUGH the congenital nonspherocytic hemolytic anemias represent a heterogeneous group of diseases, they have certain features… 
1961
1961
Congenital Nonspherocytic Hemolytic Anemia: Studies on a Family with a Qualitative Defect in Glucose-6-Phosphate Dehydrogenase
It has been well demonstrated in man and in other species that the fundamental expression of a hereditary chemical disorder may… 
Highly Cited
1959
Highly Cited
1959
Enzyme deficiency in erythrocytes in congenital nonspherocytic hemolytic anemia.
Two cases of congenital nonspherocytic hemolytic anemia are reported. The patients were brothers and both showed severe metabolic… 
Highly Cited
1959
Highly Cited
1959
Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia.
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