Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency.
Tama-Shekan S et al.
Hematology Reports, 2024
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
[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
Improving the laboratory diagnosis of pyruvate kinase deficiency.
Laas C et al.
British Journal of Haematology, 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
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal 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
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
A novel PKLR gene mutation identified using advanced molecular techniques.
He Y et al.
Pediatric Transplantation, 2018
AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.
Kung C et al.
Blood, 2017
Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
Jaouani M et al.
International Journal of Laboratory Hematology, 2017
Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.
Montllor L et al.
Medicina Clinica, 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
Causes of hemolysis in neonates with extreme hyperbilirubinemia.
Christensen RD et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
Molecular characterisation of pyruvate kinase deficiency--concerns about the description of mutant PKLR alleles.
van Wijk R et al.
British Journal of Haematology, 2007
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.
Costa C et al.
Haematologica, 2005
[Identification of 5 variants of the hemoglobin beta chain using DNA analysis (amplification, sequencing and restriction enzymes)].
Martí E et al.
Sangre, 1997
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