Associated Papers
Hemolytic anemia due to pyruvate kinase deficiency coexistent with the alpha thalassemia trait and chronic myeloid leukemia.
Shrestha N et al.
Hematology, Transfusion and Cell Therapy, 2024
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R et al.
Annals of Hematology, 2023
Novel PLKR mutations in four families with pyruvate kinase deficiency.
Qin L et al.
International Journal of Laboratory Hematology, 2020
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy NB et al.
British Journal of Haematology, 2016
Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.
Manco L et al.
European Journal of Haematology, 2010
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
van Wijk R et al.
Human Mutation, 2009
Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.
Manco L et al.
Human Genetics, 2008
Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.
Pissard S et al.
The Journal of Pediatrics, 2007
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
[A case of congenital non-spherocytic hemolytic anemia caused by enzyme deficiency in pyruvate kinase].
Clavier M et al.
Journal De Genetique Humaine, 1986
[Splenectomized pyruvate kinase deficiency hemolytic anemia with positive Coombs' test: report of a case with family study (author's transl)].
Kojima S et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1979
[Metabolic studies in a family with 3 cases of congenital non-spherocytic hemolytic anemia with a pyruvate kinase deficiency].
Busch D
Folia Haematologica; Internationales Magazin Fur Blutforschung, 1964
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