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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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Red blood cell PK deficiency: An update of PK-LR gene mutation database

Blood cells, molecules, & diseases, 2016-03, Vol.57, p.100-109

2016

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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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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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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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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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Structural Basis of Human Triosephosphate Isomerase Deficiency: MUTATION E104D IS RELATED TO ALTERATIONS OF A CONSERVED WATER NETWORK AT THE DIMER INTERFACE

The Journal of biological chemistry, 2008-08, Vol.283 (34), p.23254-23263

2008

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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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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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The E104D mutation increases the susceptibility of human triosephosphate isomerase to proteolysis. Asymmetric cleavage of the two monomers of the homodimeric enzyme

Biochimica et biophysica acta, 2013-12, Vol.1834 (12), p.2702-2711

2013

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A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe Jaundice

Neonatology (Basel, Switzerland), 2014-01, Vol.106 (2), p.140-142

2014

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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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Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia

Experimental hematology, 2007-08, Vol.35 (8), p.1182-1189

2007

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Red cell pyruvate kinase deficiency: from genetics to clinical manifestations

Bailliere's best practice & research. Clinical haematology, 2000-03, Vol.13 (1), p.57-81

2000

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HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

Blood, 2003-01, Vol.101 (1), p.345-347

2003

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Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia

Blood, 2001-11, Vol.98 (10), p.3113-3120

2001

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PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

British journal of haematology, 2004-11, Vol.127 (3), p.364-366

2004

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Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

European journal of pediatrics, 2000-07, Vol.159 (7), p.481-482

2000

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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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Glucose-6-phosphate isomerase deficiency

Bailliere's best practice & research. Clinical haematology, 2000-03, Vol.13 (1), p.89-101

2000

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A new PKLR gene mutation in the R‐type promoter region affects the gene transcription causing pyruvate kinase deficiency

British journal of haematology, 2000-09, Vol.110 (4), p.993-997

2000

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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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Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants

Bailliere's best practice & research. Clinical haematology, 2000-03, Vol.13 (1), p.39-55

2000

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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

Red blood cell PK deficiency: An update of PK-LR gene mutation database

Red cell pyruvate kinase deficiency: molecular and clinical aspects

Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate 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

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

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

Structural Basis of Human Triosephosphate Isomerase Deficiency: MUTATION E104D IS RELATED TO ALTERATIONS OF A CONSERVED WATER NETWORK AT THE DIMER INTERFACE

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

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

The E104D mutation increases the susceptibility of human triosephosphate isomerase to proteolysis. Asymmetric cleavage of the two monomers of the homodimeric enzyme

A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe Jaundice

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

Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations

HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia

PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

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

Glucose-6-phosphate isomerase deficiency

A new PKLR gene mutation in the R‐type promoter region affects the gene transcription causing pyruvate kinase deficiency

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

Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants

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