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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

The New England journal of medicine, 2019-09, Vol.381 (10), p.933-944

2019

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Molecular heterogeneity of pyruvate kinase deficiency

Haematologica (Roma), 2020-09, Vol.105 (9), p.2218-2228

2020

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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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The variable manifestations of disease in pyruvate kinase deficiency and their management

Haematologica (Roma), 2020-09, Vol.105 (9), p.2229-2239

2020

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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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Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Haematologica (Roma), 2021-10, Vol.106 (10), p.2720-2725

2021

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Child Neurology: Triosephosphate isomerase deficiency

Neurology, 2020-12, Vol.95 (24), p.e3448

2020

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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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Pyruvate kinase deficiency in a newborn with extramedullary hematopoiesis in the skin

Blood, 2020-08, Vol.136 (6), p.770-770

2020

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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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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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Erythrocytapheresis as a novel treatment option for adult patients with pyruvate kinase deficiency

Haematologica (Roma), 2020-07, Vol.105 (7), p.e373-e375

2020

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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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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

Molecular heterogeneity of pyruvate kinase deficiency

Pyruvate kinase activators for treatment of pyruvate kinase deficiency

The variable manifestations of disease in pyruvate kinase deficiency and their management

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

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Child Neurology: Triosephosphate isomerase 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

Pyruvate kinase deficiency in a newborn with extramedullary hematopoiesis in the skin

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

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

Erythrocytapheresis as a novel treatment option for adult 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

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