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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 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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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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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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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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Residual pyruvate kinase activity in PKLR‐deficient erythroid precursors of a patient suffering from severe haemolytic anaemia

European journal of haematology, 2017-06, Vol.98 (6), p.584-589

2017

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Novel PLKR mutations in four families with pyruvate kinase deficiency

International journal of laboratory hematology, 2020-04, Vol.42 (2), p.e84-e87

2020

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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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Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios

British journal of haematology, 2014-05, Vol.165 (4), p.556-563

2014

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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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Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney

Pediatric blood & cancer, 2014-08, Vol.61 (8), p.1463-1465

2014

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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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Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia

Pediatric blood & cancer, 2016-05, Vol.63 (5), p.914-916

2016

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Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

International Journal of Laboratory Hematology, 2017-04, Vol.39 (2), p.223-231

2017

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Molecular and clinical heterogeneity in pyruvate kinase deficiency in India

Blood cells, molecules, & diseases, 2013-10, Vol.51 (3), p.133-137

2013

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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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Red cell pyruvate kinase deficiency in Spain: A study of 15 cases

Medicina clinica, 2017-01, Vol.148 (1), p.23

2017

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

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

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

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

Residual pyruvate kinase activity in PKLR‐deficient erythroid precursors of a patient suffering from severe haemolytic anaemia

Novel PLKR mutations in four families with pyruvate kinase deficiency

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

Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios

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

Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney

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

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

Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

Molecular and clinical heterogeneity in pyruvate kinase deficiency in India

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

Triosephosphate isomerase deficiency: Facts and doubts

Red cell pyruvate kinase deficiency in Spain: A study of 15 cases

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