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Updates and advances in pyruvate kinase deficiency

Trends in molecular medicine, 2023-05, Vol.29 (5), p.406-418

2023

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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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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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Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

Biochimica et biophysica acta. Molecular basis of disease, 2019-09, Vol.1865 (9), p.2257-2266

2019

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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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Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

Blood cells, molecules, & diseases, 2016-09, Vol.60, p.18-23

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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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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Triosephosphate Isomerase Deficiency: A Patient With Val231Met Mutation

Pediatric neurology, 2011-02, Vol.44 (2), p.139-142

2011

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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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Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers

Blood cells, molecules, & diseases, 2010-01, Vol.44 (1), p.62-68

2010

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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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Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation

Biochimica et biophysica acta, 2005-06, Vol.1740 (3), p.467-471

2005

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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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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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A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia—characterization of enzyme using yeast expression system and molecular modeling

Blood cells, molecules, & diseases, 2004-01, Vol.32 (1), p.124-130

2004

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Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5′ nucleotidase deficiency: 25 years later

Bailliere's best practice & research. Clinical haematology, 2000-03, Vol.13 (1), p.103-118

Corrons, Joan-Lluis Vives i

2000

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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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Hematologically Important Mutations: Red Cell Pyruvate Kinase (Third Update)

Blood cells, molecules, & diseases, 2000-02, Vol.26 (1), p.47-53

2000

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Hexokinase: gene structure and mutations

Bailliere's best practice & research. Clinical haematology, 2000-03, Vol.13 (1), p.83-88

Kanno, Hitoshi

2000

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A New Exon 9 Glucose-6-phosphate Dehydrogenase Mutation (G6PD “Rehovot”) in a Jewish Ethiopian Family with Variable Phenotypes

Blood cells, molecules, & diseases, 2000-12, Vol.26 (6), p.567-571

2000

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Towards enzyme-replacement treatment in triosephosphate isomerase deficiency

The Lancet (British edition), 1999-04, Vol.353 (9159), p.1155-1156

1999

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Hematologically Important Mutations: Red Cell Pyruvate Kinase (2ndupdate)

Blood cells, molecules, & diseases, 1998-09, Vol.24 (3), p.273-279

1998

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Hexokinase Mutations that Produce Nonspherocytic Hemolytic Anemia

Blood cells, molecules, & diseases, 1995-01, Vol.21 (1), p.2-8

1995

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Study of the Molecular Defects in Pyruvate Kinase Deficient Patients Affected by Nonspherocytic Hemolytic Anemia

Blood cells, molecules, & diseases, 1995-01, Vol.21 (1), p.49-55

1995

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Updates and advances in pyruvate kinase deficiency

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

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

Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

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

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

Molecular and clinical heterogeneity in pyruvate kinase deficiency in India

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

Triosephosphate Isomerase Deficiency: A Patient With Val231Met Mutation

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

Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations

Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation

Glucose-6-phosphate isomerase deficiency

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

A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia—characterization of enzyme using yeast expression system and molecular modeling

Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5′ nucleotidase deficiency: 25 years later

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

Hematologically Important Mutations: Red Cell Pyruvate Kinase (Third Update)

Hexokinase: gene structure and mutations

A New Exon 9 Glucose-6-phosphate Dehydrogenase Mutation (G6PD “Rehovot”) in a Jewish Ethiopian Family with Variable Phenotypes

Towards enzyme-replacement treatment in triosephosphate isomerase deficiency

Hematologically Important Mutations: Red Cell Pyruvate Kinase (2ndupdate)

Hexokinase Mutations that Produce Nonspherocytic Hemolytic Anemia

Study of the Molecular Defects in Pyruvate Kinase Deficient Patients Affected by Nonspherocytic Hemolytic Anemia

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