Associated Papers
Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.
Rafat M et al.
International Journal of Laboratory Hematology, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 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
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
Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
Johnson S et al.
Pediatric Blood & Cancer, 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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P et al.
Haematologica, 2020
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar PS et al.
International Journal of Hematology, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 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
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
A novel PKLR gene mutation identified using advanced molecular techniques.
He Y et al.
Pediatric Transplantation, 2018
[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
Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
Warang P et al.
Blood Cells, Molecules & Diseases, 2013
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.
Rider NL et al.
American Journal of Hematology, 2011
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
Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.
Wijk R et al.
British Journal of Haematology, 2004
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
[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