Associated Papers
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
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P et al.
Haematologica, 2020
A novel PKLR gene mutation identified using advanced molecular techniques.
He Y et al.
Pediatric Transplantation, 2018
Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
Warang P et al.
Blood Cells, Molecules & Diseases, 2013
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.
Kedar P et al.
Clinical Genetics, 2009
Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.
Gupta N et al.
Prenatal Diagnosis, 2007
[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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