Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
Maciak K et al.
Blood Cells, Molecules & Diseases, 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
Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
Agarwal AM et al.
European Journal of Haematology, 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
Updates and advances in pyruvate kinase deficiency.
Luke N et al.
Trends in Molecular Medicine, 2023
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.
Zaninoni A et al.
Scientific Reports, 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
Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency.
Dulmovits BM et al.
Neonatology, 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
Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.
Mehrabi Sisakht J et al.
Archives of Iranian Medicine, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
Johnson S et al.
Pediatric Blood & Cancer, 2022
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
Al-Samkari H et al.
The New England Journal of Medicine, 2022
Fetal Pyruvate Kinase Deficiency Identified Incidentally in a Chinese Family at Risk for α-Thalassemia.
Han J et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2022
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia.
Fawaz N et al.
Clinical Case Reports, 2022
Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.
Fattizzo B et al.
Journal of Blood Medicine, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.
Van Dooijeweert B et al.
Haematologica, 2021
[Consensus document for the diagnosis and treatment of pyruvate kinase deficiency].
Morado M et al.
Medicina Clinica, 2021
Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.
Fañanas-Baquero S et al.
Molecular Therapy. Methods & Clinical Development, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
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
Improving the laboratory diagnosis of pyruvate kinase deficiency.
Laas C et al.
British Journal of Haematology, 2021
AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.
Rab MAE et al.
Haematologica, 2021
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
Prevalence of pyruvate kinase deficiency: A systematic literature review.
Secrest MH et al.
European Journal of Haematology, 2020
Erythrocytapheresis as a novel treatment option for adult patients with pyruvate kinase deficiency.
Jensen RFG et al.
Haematologica, 2020
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report.
Maciak K et al.
Frontiers in Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
[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
How we manage patients with pyruvate kinase deficiency.
Grace RF et al.
British Journal of Haematology, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2019
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
[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
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
Siblings with severe pyruvate kinase deficiency and a complex genotype.
Christensen RD et al.
American Journal of Medical Genetics. Part A, 2016
Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.
Kager L et al.
Pediatric Blood & Cancer, 2016
Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.
van Bruggen R et al.
Plos One, 2015
Causes of hemolysis in neonates with extreme hyperbilirubinemia.
Christensen RD et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
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