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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
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An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic…
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National Institutes of Health
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Related topics
Related topics
13 relations
Amino Acid Metabolism, Inborn Errors
Autosomal recessive inheritance
Cholecystitis
Cholelithiasis
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Broader (5)
Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital Nonspherocytic
Enzyme Deficiency
Inborn Errors of Metabolism
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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.
A. Kahn
,
J. Marie
,
C. Galand
,
P. Boivin
Scandinavian Journal of Haematology
2009
Corpus ID: 40247544
Two patients with mild chronic haemolytic anaemia, a mother and her son, were found to be heterozygous for erythrocyte pyruvate…
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2001
2001
Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases.
A. Zanella
,
P. Bianchi
,
+7 authors
M. Sampietro
Blood Cells, Molecules & Diseases
2001
Corpus ID: 10982720
We evaluated the iron status and searched for mutations C282Y and H63D in the hereditary hemochromatosis gene (HFE) in 34…
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1995
1995
Genetic test for pyruvate kinase deficiency of Basenjis.
Katharine Μ. Whitney
,
Clinton D. Lothrop
Journal of the American Veterinary Medical…
1995
Corpus ID: 24500327
Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative…
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Highly Cited
1993
Highly Cited
1993
Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.
L. Baronciani
,
Ernest Beutler
Proceedings of the National Academy of Sciences…
1993
Corpus ID: 31636327
The intron sequences of the human L-type pyruvate kinase gene (PKLR) were determined by using primers selected from the known…
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Highly Cited
1993
Highly Cited
1993
Iron status in red cell pyruvate kinase deficiency: study of Italian cases
A. Zanella
,
A. Berzuini
,
+5 authors
G. Barosi
British Journal of Haematology
1993
Corpus ID: 7730182
Summary. We investigated the iron status of 33 pyruvate kinase (PK) deficient patients, most of the cases reported in Italy…
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1990
1990
Hydrops fetalis associated with red cell pyruvate kinase deficiency.
R. Hennekam
,
F. Beemer
,
B. Cats
,
G. Jansen
,
G. Staal
Genetic Counseling
1990
Corpus ID: 27618379
A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks…
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1980
1980
Hemolytic Anemia and Pyruvate Kinase Deficiency in Pregnancy
K. Amankwah
,
B. W. Dick
,
S. Dodge
Obstetrics and Gynecology
1980
Corpus ID: 12445468
&NA; Hemolytic anemia due to deficiency of erythrocytic pyruvate kinase is a rare autosomal recessive disorder. Pregnancy…
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Highly Cited
1977
Highly Cited
1977
Evidence for a postsynthetic proteolytic transformation of human erythrocyte pyruvate kinase into L‐type enzyme
J. Marie
,
H. Garreau
,
A. Kahn
FEBS Letters
1977
Corpus ID: 37016897
1969
1969
A Low Km Phosphoenolpyruvate Mutant in the Amish with Red Cell Pyruvate Kinase Deficiency
F. Oski
,
H. Bowman
British Journal of Haematology
1969
Corpus ID: 32627329
Summary. The biochemical heterogeneity of red cell pyruvate kinase (PK)‐deficiency was demonstrated in a study of six patients…
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1968
1968
Liver pyruvate kinase (PK) isozymes in a PK‐deficient patient *
R. Bigley
,
R. Koler
Annals of Human Genetics
1968
Corpus ID: 34151815
Liver from a patient with hereditary haemolytic anaemia due to pyruvate kinase deficiency is a deficient in the ‘erythrocyte’ PK…
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