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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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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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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.661-665

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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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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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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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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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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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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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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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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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 mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria

PloS one, 2017-05, Vol.12 (5), p.e0177818-e0177818

2017

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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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Molecular heterogeneity of pyruvate kinase deficiency

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

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

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

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

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

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

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

Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency

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

The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria

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

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