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Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Hematology, 2023-12, Vol.2023 (1), p.97-106

Grace, Rachael F

2023

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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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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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The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design

BMJ open, 2023-03, Vol.13 (3), p.e063605-e063605

2023

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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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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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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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RLS with PLMS in a child with hemolytic anemia caused by pyruvate kinase deficiency

Sleep medicine, 2020-05, Vol.69, p.100-102

2020

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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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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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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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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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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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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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Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center

Pediatric hematology and oncology, 2015-07, Vol.32 (5), p.354-361

2015

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Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression

Blood, 2005-09, Vol.106 (5), p.1851-1856

2005

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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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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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Molecular characterization of the PK‐LR gene in sixteen pyruvate kinase‐deficient patients

British journal of haematology, 2001-04, Vol.113 (1), p.43-48

2001

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A novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia in an Indian family

Annals of hematology, 2006-12, Vol.85 (12), p.879-880

2006

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Congenital non spherocytic hemolytic anemia (CNSHA) due to pyrimidine 5' nucleotidase deficiency

Indian pediatrics, 2006-02, Vol.43 (2), p.184

2006

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Glucosephosphate Isomerase (GPI) Deficiency Mutations Associated with Hereditary Nonspherocytic Hemolytic Anemia (HNSHA)

Blood cells, molecules, & diseases, 1997-12, Vol.23 (3), p.402-409

1997

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Pyruvate kinase activators for treatment of pyruvate kinase deficiency

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

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

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design

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

Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency

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

RLS with PLMS in a child with hemolytic anemia caused by pyruvate kinase deficiency

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

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

Molecular and clinical heterogeneity in pyruvate kinase deficiency in India

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

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

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

Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center

Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression

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

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

Molecular characterization of the PK‐LR gene in sixteen pyruvate kinase‐deficient patients

A novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia in an Indian family

Congenital non spherocytic hemolytic anemia (CNSHA) due to pyrimidine 5' nucleotidase deficiency

Glucosephosphate Isomerase (GPI) Deficiency Mutations Associated with Hereditary Nonspherocytic Hemolytic Anemia (HNSHA)

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