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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 a newborn with extramedullary hematopoiesis in the skin

Blood, 2020-08, Vol.136 (6), p.770-770

2020

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Generation and analysis of TPI deficiency zebrafish model

Yíchuán, 2024-03, Vol.46 (3), p.232

2024

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The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria

PloS one, 2017-05, Vol.12 (5), p.e0177818-e0177818

2017

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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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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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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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A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing

Zhongguo shi yan xue ye xue za zhi, 2015-10, Vol.23 (5), p.1464

2015

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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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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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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 Modelling of Human Red Blood Cell Pyruvate Kinase: Structural Implications of a Novel G1091 to A Mutation Causing Severe Nonspherocytic Hemolytic Anemia

Blood, 1997-12, Vol.90 (12), p.4987-4995

1997

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Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH)

British journal of haematology, 1998-11, Vol.103 (2), p.377-382

1998

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From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency

Nederlands tijdschrift voor geneeskunde, 2002-09, Vol.146 (39), p.1828

2002

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Molecular genetics of glucose‐6‐phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene

British journal of haematology, 1995-09, Vol.91 (1), p.66-71

1995

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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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Erythrocytic enzymopathy in Uzbekistan

Likars'ka sprava, 2011-10 (7-8), p.73

2011

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Three New Exon 10 Glucose-6-Phosphate Dehydrogenase Mutations

Blood cells, molecules, & diseases, 1995, Vol.21 (1), p.64-72

1995

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Human Aldolase A Deficiency Associated with a Hemolytic Anemia: Thermolabile Aldolase due to a Single Base Mutation

Proceedings of the National Academy of Sciences - PNAS, 1987-12, Vol.84 (23), p.8623-8627

1987

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Primary Structure of Murine Red Blood Cell-Type Pyruvate Kinase (PK) and Molecular Characterization of PK Deficiency Identified in the CBA Strain

Blood, 1995-10, Vol.86 (8), p.3205-3210

1995

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A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

Human genetics, 1994-11, Vol.94 (5), p.560-562

1994

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Molecular characterisation of an Italian G6PD variant responsible for chronic non-spherocytic haemolytic anaemia

Clinical genetics, 1994-11, Vol.46 (5), p.357-359

1994

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Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia

British journal of haematology, 1993-10, Vol.85 (2), p.352-355

1993

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Hereditary Hemolytic Anemia with Increased Red Cell Adenosine Deaminase (45- to 70-fold) and Decreased Adenosine Triphosphate

Science (American Association for the Advancement of Science), 1977-02, Vol.195 (4280), p.783-785

1977

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Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia

הרפואה, 1994-06, Vol.126 (12), p.699

1994

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Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Pyruvate kinase deficiency in a newborn with extramedullary hematopoiesis in the skin

Generation and analysis of TPI deficiency zebrafish model

The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria

Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase 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

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

A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing

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

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

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

Molecular Modelling of Human Red Blood Cell Pyruvate Kinase: Structural Implications of a Novel G1091 to A Mutation Causing Severe Nonspherocytic Hemolytic Anemia

Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH)

From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency

Molecular genetics of glucose‐6‐phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene

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

Erythrocytic enzymopathy in Uzbekistan

Three New Exon 10 Glucose-6-Phosphate Dehydrogenase Mutations

Human Aldolase A Deficiency Associated with a Hemolytic Anemia: Thermolabile Aldolase due to a Single Base Mutation

Primary Structure of Murine Red Blood Cell-Type Pyruvate Kinase (PK) and Molecular Characterization of PK Deficiency Identified in the CBA Strain

A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

Molecular characterisation of an Italian G6PD variant responsible for chronic non-spherocytic haemolytic anaemia

Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia

Hereditary Hemolytic Anemia with Increased Red Cell Adenosine Deaminase (45- to 70-fold) and Decreased Adenosine Triphosphate

Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia

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