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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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Pyruvate kinase deficiency in children

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

2021

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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

2021

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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

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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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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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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

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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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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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Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency

Current medical science, 2024-04, Vol.44 (2), p.426-434

2024

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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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Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction

Indian journal of pediatrics, 2019-08, Vol.86 (8), p.692-699

2019

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RLS with PLMS in a child with hemolytic anemia caused by pyruvate kinase deficiency

Sleep medicine, 2020-05, Vol.69, p.100-102

2020

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Evidence of a triosephosphate isomerase non-catalytic function crucial to behavior and longevity

Journal of cell science, 2013-07, Vol.126 (Pt 14), p.3151-3158

2013

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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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Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ‐line de novo mutation

American journal of hematology, 2015-12, Vol.90 (12), p.E217-E219

2015

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Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn

Molecular biology reports, 2020-10, Vol.47 (10), p.8311-8315

2020

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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

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

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

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

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

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

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

Generation and analysis of TPI deficiency zebrafish model

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

Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency

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

Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction

RLS with PLMS in a child with hemolytic anemia caused by pyruvate kinase deficiency

Evidence of a triosephosphate isomerase non-catalytic function crucial to behavior and longevity

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

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ‐line de novo mutation

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells

Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn

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