Associated Papers
Germline Variants in Idiopathic Erythrocytosis Identified by Multigene Panel Sequencing.
Park MS et al.
International Journal of Laboratory Hematology, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V et al.
British Journal of Haematology, 2024
Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis.
Wang Y et al.
Heliyon, 2024
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.
Choi YJ et al.
Bmc Medical Genomics, 2023
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
Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.
Kim N et al.
Diagnostics (basel, Switzerland), 2023
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Fañanas-Baquero S et al.
Frontiers in Genome Editing, 2023
Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation.
Wu H et al.
Frontiers in Genetics, 2023
The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.
Kim YJ et al.
Nature Communications, 2022
Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency.
Chueh HW et al.
Pediatric Hematology and Oncology, 2022
A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.
Sivashangar A et al.
Journal of Medical Case Reports, 2021
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P et al.
Haematologica, 2020
Prevalence of pyruvate kinase deficiency: A systematic literature review.
Secrest MH et al.
European Journal of Haematology, 2020
Genetic Profile and Microsatellite Instability in a Case of Secondary Esophageal Squamous Cell Carcinoma 12 Years After Allogeneic Hematopoietic Stem Cell Transplantation for Aplastic Anemia.
Akiyama M et al.
Journal of Pediatric Hematology/oncology, 2020
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
[Case report of a family with erythrocyte pyruvate kinase deficiency].
Pan YP et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2019
Genetic variation influencing hemoglobin levels and risk for anemia across populations.
Barrera-Reyes PK et al.
Annals of the New York Academy of Sciences, 2019
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
Rets A et al.
International Journal of Laboratory Hematology, 2019
AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.
Kung C et al.
Blood, 2017
[Identification and characterization of PKLR gene mutation in two patients with erythrocyte pyruvate kinase deficiency].
Huang ZD et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2017
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
A novel homozygous mutation of PKLR gene in a pyruvate-kinase-deficient Korean family.
Park-Hah JO et al.
Acta Haematologica, 2005
Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.
Percy MJ et al.
Blood Cells, Molecules & Diseases, 0
Novel mutations associated with pyruvate kinase deficiency in Brazil.
Svidnicki MCCM et al.
Hematology, Transfusion and Cell Therapy, 0