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Deficiency of pyruvate kinase

Known as: Hemolytic Anemia due to Pyruvate Kinase Deficiency, deficiency kinase pyruvate, ANEMIA, HEMOLYTIC, PYRUVATE KINASE DEFICIENCY 
An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic… 
National Institutes of Health

Related topics

Related topics

13 relations
Amino Acid Metabolism, Inborn ErrorsAutosomal recessive inheritanceCholecystitisCholelithiasis

Broader (5)

Anemia, Hemolytic, CongenitalAnemia, Hemolytic, Congenital NonspherocyticEnzyme DeficiencyInborn Errors of Metabolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Chronic haemolytic anaemia in two patients heterozygous for erythrocyte pyruvate kinase deficiency. Electrofocusing and immunological studies of erythrocyte and liver pyruvate kinase.
Two patients with mild chronic haemolytic anaemia, a mother and her son, were found to be heterozygous for erythrocyte pyruvate… 
2001
2001
Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases.
We evaluated the iron status and searched for mutations C282Y and H63D in the hereditary hemochromatosis gene (HFE) in 34… 
1995
1995
Genetic test for pyruvate kinase deficiency of Basenjis.
Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative… 
Highly Cited
1993
Highly Cited
1993
Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.
The intron sequences of the human L-type pyruvate kinase gene (PKLR) were determined by using primers selected from the known… 
Highly Cited
1993
Highly Cited
1993
Iron status in red cell pyruvate kinase deficiency: study of Italian cases
Summary. We investigated the iron status of 33 pyruvate kinase (PK) deficient patients, most of the cases reported in Italy… 
1990
1990
Hydrops fetalis associated with red cell pyruvate kinase deficiency.
A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks… 
1980
1980
Hemolytic Anemia and Pyruvate Kinase Deficiency in Pregnancy
&NA; Hemolytic anemia due to deficiency of erythrocytic pyruvate kinase is a rare autosomal recessive disorder. Pregnancy… 
Highly Cited
1977
Highly Cited
1977
Evidence for a postsynthetic proteolytic transformation of human erythrocyte pyruvate kinase into L‐type enzyme
1969
1969
A Low Km Phosphoenolpyruvate Mutant in the Amish with Red Cell Pyruvate Kinase Deficiency
Summary. The biochemical heterogeneity of red cell pyruvate kinase (PK)‐deficiency was demonstrated in a study of six patients… 
1968
1968
Liver pyruvate kinase (PK) isozymes in a PK‐deficient patient *
Liver from a patient with hereditary haemolytic anaemia due to pyruvate kinase deficiency is a deficient in the ‘erythrocyte’ PK… 
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