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Molecular heterogeneity of pyruvate kinase deficiency

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

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

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

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

2023

Volltextzugriff (PDF)

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

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

2021

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Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency

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

2016

Volltextzugriff (PDF)

Child Neurology: Triosephosphate isomerase deficiency

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

2020

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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

Volltextzugriff (PDF)

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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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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2023

Volltextzugriff (PDF)

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

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

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, Article 130

2024

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Generation and analysis of TPI deficiency zebrafish model

Yíchuán, 2024-03, Vol.46 (3), p.232

2024

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Red cell pyruvate kinase deficiency: molecular and clinical aspects

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

2005

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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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

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

Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency

Child Neurology: Triosephosphate isomerase 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

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

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

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

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

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

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

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

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

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

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