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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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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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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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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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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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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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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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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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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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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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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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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 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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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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Hemolytic Anemia and Progressive Neurologic Impairment: Think About Triosephosphate Isomerase Deficiency

Fetal and pediatric pathology, 2014-08, Vol.33 (4), p.234-238

2014

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In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency

European journal of medical genetics, 2017-06, Vol.60 (6), p.289-298

2017

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Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: The first report from India

Hematology (Luxembourg), 2014-06, Vol.19 (4), p.199-201

2014

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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

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

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

Biallelic hexokinase 1 (HK1) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review

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

Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin

PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

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

Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report

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

Evidence of a triosephosphate isomerase non-catalytic function crucial to behavior and longevity

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

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

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

Triosephosphate isomerase deficiency: Facts and doubts

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

Hemolytic Anemia and Progressive Neurologic Impairment: Think About Triosephosphate Isomerase Deficiency

In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency

Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: The first report from India

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