FAQ

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… (More)

Topic mentions per year

Topic mentions per year

1963-2017
0102019632017

Related topics

Related topics

13 relations
Amino Acid Metabolism, Inborn ErrorsAutosomal recessive inheritanceCholecystitisCholelithiasis
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Broader (5)

Anemia, Hemolytic, CongenitalAnemia, Hemolytic, Congenital NonspherocyticEnzyme DeficiencyInborn Errors of Metabolism
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Deficiency of pyruvate kinase
Icterus
Autosomal recessive inheritance
Cholecystitis
Cholelithiasis
Pyruvate Kinase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency.
Iron absorption is inadequately increased in patients with chronic haemolytic anaemia, which is commonly complicated by iron… (More)
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2008
2008
Pyruvate kinase deficiency and malaria.
Malaria that is caused by Plasmodium falciparum is a significant global health problem. Genetic characteristics of the host… (More)
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Highly Cited
2003
Highly Cited
2003
Pyruvate kinase deficiency in mice protects against malaria
The global health impact of malaria is enormous, with an estimated 300–500 million clinical cases and 1 million annual deaths. In… (More)
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2001
2001
Recurrent thromboembolic disease following splenectomy for pyruvate kinase deficiency.
We report a case of recurrent thromboembolic disease and chronic pulmonary hypertension in an adult patient with pyruvate kinase… (More)
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2000
2000
Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population.
Pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. The prevalence of this… (More)
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2000
2000
Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency
We report the first successful use of BMT for the treatment of RBC pyruvate kinase (PK) deficiency in a boy who developed… (More)
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1997
1997
Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency.
Three novel splice site mutations and two novel missense mutations were identified by molecular analysis of pyruvate kinase (PK… (More)
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1993
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… (More)
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1993
1993
Fetal anaemia due to pyruvate kinase deficiency.
Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three… (More)
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1966
1966
A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency.
I T HAS BECOME increasingly apparent that many forms of hemolytic disease are due to hereditary enzyme deficiencies affecting the… (More)
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