Associated Papers
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V et al.
British Journal of Haematology, 2024
Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency.
Pang Y et al.
Frontiers in Immunology, 2024
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
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I et al.
Frontiers in Immunology, 2022
36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo R et al.
American Journal of Hematology, 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
[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
Li D et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016
[A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing].
Li DL et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2015
Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center.
Unal S et al.
Pediatric Hematology and Oncology, 2015
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
Mitapivat therapy in a patient with nonsense homozygous mutation of the Pyruvate Kinase L/R gene: a case report.
Ceglie S et al.
Blood Transfusion = Trasfusione Del Sangue, 0
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