Associated Papers
From Mutation to Manifestation: Evaluation of a PKLR Gene Truncation Caused by Exon Skipping in a Schnauzer Terrier.
Ma TY et al.
Animals : an Open Access Journal From Mdpi, 2025
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V et al.
British Journal of Haematology, 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
Genetic variants of PKLR are associated with acute pain in sickle cell disease.
Wang X et al.
Blood Advances, 2022
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P et al.
Haematologica, 2020
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Al-Samkari H et al.
Haematologica, 2020
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
More TA et al.
Annals of Hematology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.
Bagla S et al.
Haematologica, 2019
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Shefer Averbuch N et al.
European Journal of Haematology, 2018
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo R et al.
American Journal of Hematology, 2018
AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.
Kung C et al.
Blood, 2017
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Mojzikova R et al.
British Journal of Haematology, 2014
A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.
Vercellati C et al.
Clinical Laboratory, 2013
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats.
Grahn RA et al.
Bmc Veterinary Research, 2012
Mining for allosteric information: natural mutations and positional sequence conservation in pyruvate kinase.
Pendergrass DC et al.
Iubmb Life, 2006
A novel homozygous mutation of PKLR gene in a pyruvate-kinase-deficient Korean family.
Park-Hah JO et al.
Acta Haematologica, 2005
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.
Valentini G et al.
The Journal of Biological Chemistry, 2002
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.
Pastore L et al.
Human Mutation, 1998
Novel mutations associated with pyruvate kinase deficiency in Brazil.
Svidnicki MCCM et al.
Hematology, Transfusion and Cell Therapy, 0