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Pyruvate kinase deficiency in children

Pediatric blood & cancer, 2021-09, Vol.68 (9), p.e29148-n/a

2021

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Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias

European journal of haematology, 2018-09, Vol.101 (3), p.297-304

2018

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Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency

Molecular therapy, 2016-07, Vol.24 (7), p.1187-1198

2016

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Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

American journal of hematology, 2022-03, Vol.97 (3), p.E120-E125

2022

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Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population

Annals of hematology, 2023-05, Vol.102 (5), p.1029-1036

2023

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Red blood cell PK deficiency: An update of PK-LR gene mutation database

Blood cells, molecules, & diseases, 2016-03, Vol.57, p.100-109

2016

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Biallelic hexokinase 1 (HK1) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review

British journal of haematology, 2024-05, Vol.204 (5), p.2040-2048

2024

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Early‐onset reduced bone mineral density in patients with pyruvate kinase deficiency

American journal of hematology, 2023-03, Vol.98 (3), p.E57-E60

2023

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Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing

Archives of Iranian medicine, 2022-10, Vol.25 (10), p.691-697

2022

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Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report

International journal of hematology, 2022-02, Vol.115 (2), p.255-262

2022

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An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency

Expert review of hematology, 2022-10, Vol.15 (10), p.875-885

2022

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Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin

Blood cells, molecules, & diseases, 2018-03, Vol.69, p.23-29

2018

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Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach

International journal of hematology, 2019-11, Vol.110 (5), p.618-626

2019

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Red cell pyruvate kinase deficiency: molecular and clinical aspects

British journal of haematology, 2005-07, Vol.130 (1), p.11-25

2005

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PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

International journal of hematology, 2016-07, Vol.104 (1), p.125-129

2016

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Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency

Pediatric hematology and oncology, 2022-03, Vol.39 (2), p.166-173

2022

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Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

American journal of hematology, 2015-03, Vol.90 (3), p.E35-E39

2015

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The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria

PloS one, 2017-05, Vol.12 (5), p.e0177818-e0177818

2017

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Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report

Hemoglobin, 2019-09, Vol.43 (4-5), p.292-295

2019

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Residual pyruvate kinase activity in PKLR‐deficient erythroid precursors of a patient suffering from severe haemolytic anaemia

European journal of haematology, 2017-06, Vol.98 (6), p.584-589

2017

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Novel PLKR mutations in four families with pyruvate kinase deficiency

International journal of laboratory hematology, 2020-04, Vol.42 (2), p.e84-e87

2020

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Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

Blood cells, molecules, & diseases, 2016-09, Vol.60, p.18-23

2016

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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

British journal of haematology, 2014-05, Vol.165 (4), p.556-563

2014

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Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney

Pediatric blood & cancer, 2014-08, Vol.61 (8), p.1463-1465

2014

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Pyruvate Kinase - Genetics
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Pyruvate kinase deficiency in children

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias

Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population

Red blood cell PK deficiency: An update of PK-LR gene mutation database

Biallelic hexokinase 1 (HK1) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review

Early‐onset reduced bone mineral density in patients with pyruvate kinase deficiency

Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing

Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report

An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency

Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach

Red cell pyruvate kinase deficiency: molecular and clinical aspects

PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency

Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria

Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report

Residual pyruvate kinase activity in PKLR‐deficient erythroid precursors of a patient suffering from severe haemolytic anaemia

Novel PLKR mutations in four families with pyruvate kinase deficiency

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

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

Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney

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