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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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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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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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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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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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Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

American journal of hematology, 2015-03, Vol.90 (3), p.E35-E39

2015

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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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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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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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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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Triosephosphate isomerase deficiency: Facts and doubts

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

2006

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Crystal structure of recombinant human triosephosphate isomerase at 2.8 A resolution. Triosephosphate isomerase-related human genetic disorders and comparison with the trypanosomal enzyme

Protein science, 1994-05, Vol.3 (5), p.810-21

1994

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Hemolytic anemia associated with a novel heterozygote mutation 1183A in the PK-LR gene (PK- Jordan)

International journal of laboratory hematology, 2014-08, Vol.36 (4), p.e66-e68

2014

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Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome

Pediatric blood & cancer, 2015-09, Vol.62 (9), p.1680-1681

2015

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Direct detection for G6PD Bangkok and G6PD Bangkok Noi mutations in the families with chronic nonspherocytic hemolytic anemia (CNSHA)

International journal of laboratory hematology, 2015-04, Vol.37 (2), p.e21-e24

2015

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Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency

Pediatric blood & cancer, 2010-05, Vol.54 (5), p.758-760

2010

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Glucose 6‐phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non‐spherocytic haemolytic anaemia

British journal of haematology, 2010-04, Vol.149 (2), p.296-297

2010

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Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease

European journal of haematology, 2010-01, Vol.84 (1), p.89-90

2010

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Mining for allosteric information: Natural mutations and positional sequence conservation in pyruvate kinase

IUBMB life, 2006-01, Vol.58 (1), p.31-38

2006

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Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia

Human mutation, 2006-11, Vol.27 (11), p.1159-1159

2006

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Pyruvate kinase deficiency in children

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

Genotype‐phenotype correlation and molecular heterogeneity in 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

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

Red cell pyruvate kinase deficiency: molecular and clinical aspects

Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

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

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

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

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

Triosephosphate isomerase deficiency: Facts and doubts

Crystal structure of recombinant human triosephosphate isomerase at 2.8 A resolution. Triosephosphate isomerase-related human genetic disorders and comparison with the trypanosomal enzyme

Hemolytic anemia associated with a novel heterozygote mutation 1183A in the PK-LR gene (PK- Jordan)

Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome

Direct detection for G6PD Bangkok and G6PD Bangkok Noi mutations in the families with chronic nonspherocytic hemolytic anemia (CNSHA)

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency

Glucose 6‐phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non‐spherocytic haemolytic anaemia

Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease

Mining for allosteric information: Natural mutations and positional sequence conservation in pyruvate kinase

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia

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