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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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Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias

European journal of haematology, 2018-09, Vol.101 (3), p.297-304

2018

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Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry

British journal of haematology, 2024-08, Vol.205 (2), p.613-623

2024

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Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

American journal of hematology, 2020-05, Vol.95 (5), p.472-482

2020

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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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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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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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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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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 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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Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency

Blood, 2001-11, Vol.98 (10), p.3106-3112

2001

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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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Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene

International journal of hematology, 2012-08, Vol.96 (2), p.263-267

2012

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Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency

Zhonghua yi xue yi chuan xue za zhi, 2016-02, Vol.33 (1), p.53

2016

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Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin

Haematologica (Roma), 2007-11, Vol.92 (11), p.e102-e105

2007

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Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation

Zhōnghuá xuèyèxué zázhì, 2014-07, Vol.35 (7), p.601-604

2014

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Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections

Blood, 2002-08, Vol.100 (3), p.1026-1030

2002

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Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients

Blood, 1997-05, Vol.89 (10), p.3847-3852

1997

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Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

Blood, 2003-07, Vol.102 (1), p.353-356

2003

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Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

Blood, 2000-02, Vol.95 (4), p.1499-1501

2000

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Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

Human mutation, 1999-12, Vol.14 (6), p.477-484

1999

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A New Exon 9 Glucose-6-phosphate Dehydrogenase Mutation (G6PD “Rehovot”) in a Jewish Ethiopian Family with Variable Phenotypes

Blood cells, molecules, & diseases, 2000-12, Vol.26 (6), p.567-571

2000

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Three Cases of Hereditary Nonspherocytic Hemolytic Anemia Associated With Red Blood Cell Glutathione Deficiency

Blood, 1996-03, Vol.87 (5), p.2071-2074

1996

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Towards enzyme-replacement treatment in triosephosphate isomerase deficiency

The Lancet (British edition), 1999-04, Vol.353 (9159), p.1155-1156

1999

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Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome

Acta médica portuguesa, 2002-11, Vol.15 (6), p.409-412

2002

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Pyruvate kinase deficiency in children

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias

Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

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

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

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

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

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 and clinical heterogeneity in pyruvate kinase deficiency in India

Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency

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

Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene

Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin

Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections

Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients

Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

A New Exon 9 Glucose-6-phosphate Dehydrogenase Mutation (G6PD “Rehovot”) in a Jewish Ethiopian Family with Variable Phenotypes

Three Cases of Hereditary Nonspherocytic Hemolytic Anemia Associated With Red Blood Cell Glutathione Deficiency

Towards enzyme-replacement treatment in triosephosphate isomerase deficiency

Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome

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