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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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Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Hematology, 2023-12, Vol.2023 (1), p.97-106

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

Neonatology (Basel, Switzerland), 2023-10, Vol.120 (5), p.661-665

2023

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Child Neurology: Triosephosphate isomerase deficiency

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

2020

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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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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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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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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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Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate isomerase deficiency

Biochimica et biophysica acta. General subjects, 2018-06, Vol.1862 (6), p.1401-1409

2018

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The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis

BMC medical genomics, 2023-07, Vol.16 (1), p.162-162, Article 162

2023

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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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Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis

Cells (Basel, Switzerland), 2022-03, Vol.11 (7), p.1133

2022

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Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics

PLoS genetics, 2016-03, Vol.12 (3), p.e1005941-e1005941

2016

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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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Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency

PloS one, 2012-09, Vol.7 (9), p.e45173-e45173

2012

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A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

Journal of medical case reports, 2022-02, Vol.16 (1), p.66-66, Article 66

2022

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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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Structural Basis of Human Triosephosphate Isomerase Deficiency: MUTATION E104D IS RELATED TO ALTERATIONS OF A CONSERVED WATER NETWORK AT THE DIMER INTERFACE

The Journal of biological chemistry, 2008-08, Vol.283 (34), p.23254-23263

2008

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Early mitochondrial dysfunction leads to altered redox chemistry underlying pathogenesis of TPI deficiency

Neurobiology of disease, 2013-06, Vol.54, p.289-296

2013

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Triosephosphate isomerase deficiency: Facts and doubts

IUBMB life, 2006-12, Vol.58 (12), p.703-715

2006

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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Updates and advances in pyruvate kinase deficiency

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

Child Neurology: Triosephosphate isomerase deficiency

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

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

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

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

Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate isomerase deficiency

The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis

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

Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis

Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics

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

Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

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

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

Structural Basis of Human Triosephosphate Isomerase Deficiency: MUTATION E104D IS RELATED TO ALTERATIONS OF A CONSERVED WATER NETWORK AT THE DIMER INTERFACE

Early mitochondrial dysfunction leads to altered redox chemistry underlying pathogenesis of TPI deficiency

Triosephosphate isomerase deficiency: Facts and doubts

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