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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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Molecular heterogeneity of pyruvate kinase deficiency

Haematologica (Roma), 2020-09, Vol.105 (9), p.2218

2020

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The variable manifestations of disease in pyruvate kinase deficiency and their management

Haematologica (Roma), 2020-09, Vol.105 (9), p.2229

2020

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Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Haematologica (Roma), 2021-10, Vol.106 (10), p.2720

2021

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Child Neurology: Triosephosphate isomerase deficiency

Neurology, 2020-12, Vol.95 (24), p.e3448

2020

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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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Erythrocytapheresis as a novel treatment option for adult patients with pyruvate kinase deficiency

Haematologica (Roma), 2020-07, Vol.105 (7), p.e373

2020

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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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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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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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Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia

The Journal of biological chemistry, 2002-06, Vol.277 (26), p.23807-23814

2002

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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 non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin

Haematologica (Roma), 2007-11, Vol.92 (11), p.e102-e105

2007

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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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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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Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

Blood, 2003-07, Vol.102 (1), p.353-356

2003

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Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

Blood, 2000-02, Vol.95 (4), p.1499-1501

2000

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Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies

Haematologica (Roma), 2005-02, Vol.90 (2), p.257-259

2005

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Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency

Blood, 1997-06, Vol.89 (11), p.4213-4218

1997

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DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants

The Journal of biological chemistry, 1991-03, Vol.266 (7), p.4145-4150

1991

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Pyruvate Kinase Deficiency of Mice Associated With Nonspherocytic Hemolytic Anemia and Cure of the Anemia by Marrow Transplantation Without Host Irradiation

Blood, 1995-12, Vol.86 (11), p.4323-4330

1995

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Three Cases of Hereditary Nonspherocytic Hemolytic Anemia Associated With Red Blood Cell Glutathione Deficiency

Blood, 1996-03, Vol.87 (5), p.2071-2074

1996

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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

Molecular heterogeneity of pyruvate kinase deficiency

The variable manifestations of disease in pyruvate kinase deficiency and their management

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Child Neurology: Triosephosphate isomerase deficiency

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

Erythrocytapheresis as a novel treatment option for adult patients with pyruvate kinase deficiency

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

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

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

Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia

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

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin

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

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

Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies

Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency

DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants

Pyruvate Kinase Deficiency of Mice Associated With Nonspherocytic Hemolytic Anemia and Cure of the Anemia by Marrow Transplantation Without Host Irradiation

Three Cases of Hereditary Nonspherocytic Hemolytic Anemia Associated With Red Blood Cell Glutathione Deficiency

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