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Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Hematology, 2023-12, Vol.2023 (1), p.97

Grace, Rachael F

2023

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Updates and advances in pyruvate kinase deficiency

Trends in molecular medicine, 2023-05, Vol.29 (5), p.406-418

2023

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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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Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency

Neonatology (Basel, Switzerland), 2023-10, Vol.120 (5), p.661

2023

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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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Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report

Journal of medical case reports, 2024-03, Vol.18 (1), p.130-130

2024

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The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design

BMJ open, 2023-03, Vol.13 (3), p.e063605-e063605

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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Generation and analysis of TPI deficiency zebrafish model

Yíchuán, 2024-03, Vol.46 (3), p.232

2024

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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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Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

Biochimica et biophysica acta. Molecular basis of disease, 2019-09, Vol.1865 (9), p.2257-2266

2019

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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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Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Updates and advances in pyruvate kinase deficiency

Pyruvate kinase deficiency in children

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

Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency

Safe and Efficient Gene Therapy for 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

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

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

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design

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

Generation and analysis of TPI deficiency zebrafish model

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

Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

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

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