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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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Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency

Molecular therapy, 2016-07, Vol.24 (7), p.1187-1198

2016

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Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach

International journal of hematology, 2019-11, Vol.110 (5), p.618-626

2019

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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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Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

International Journal of Laboratory Hematology, 2017-04, Vol.39 (2), p.223-231

2017

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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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Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan

Journal of Veterinary Medical Science, 2015, Vol.77(6), pp.743-746

2015

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Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats

BMC veterinary research, 2012-10, Vol.8 (1), p.207-207

2012

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Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections

Blood, 2002-08, Vol.100 (3), p.1026-1030

2002

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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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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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Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency: a prevalence study in Quebec (Canada)

Human heredity, 1992, Vol.42 (3), p.179

1992

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Hereditary nonspherocytic hemolytic anemia with a high level of membraneous Mg++-ATPase: lipohepato-diabeto-hemolytic syndrome

Rinshō ketsueki, 1986-07, Vol.27 (7), p.1160

Kagimoto, T

1986

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Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Blood, 2018-05, Vol.131 (20), p.2183-2192

2018

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Two cases in a family with new variants of glucose phosphate isomerase deficiency (author's transl)

Rinshō ketsueki, 1980-05, Vol.21 (5), p.633

1980

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Two cases of pyruvate kinase variants (author's transl)

Rinshō ketsueki, 1982-02, Vol.23 (2), p.206

1982

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Clinical Features and Biochemical Aspects of Red Blood Cells in Hb Hirosaki

The Tohoku Journal of Experimental Medicine, 1981, Vol.133(2), pp.187-196

1981

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A family of new glucose 6-phosphate dehydrogenase (G 6 PD) variant associated with chronic nonspherocytic hemolytic anemia: G 6 PD Kurume (author's transl)

Rinshō ketsueki, 1979-01, Vol.20 (1), p.82

1979

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Congenital nonspherocytic hemolytic anemia with increased activity of erythrocyte ATP-ase

Nihon Shonika Gakkai zasshi. Acta paediatrica Japonica, 1971-05, Vol.75 (5), p.341

1971

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Report of a family with congenital non-spherocytic haemolytic anemia due to functionally abnormal pyruvate-kinase

Nihon Naika Gakkai zasshi, 1970-04, Vol.59 (4), p.345-350

1970

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Case of congenital nonspherocytic hemolytic anemia

Nihon rinshō, 1966-08, Vol.24 (8), p.1535

1966

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PGK deficiency

British journal of haematology, 2007-01, Vol.136 (1), p.3-11

Beutler, Ernest

2007

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Metabolic flux response to phosphoglucose isomerase knock-out in Escherichia coli and impact of overexpression of the soluble transhydrogenase UdhA

FEMS microbiology letters, 2001-11, Vol.204 (2), p.247-252

2001

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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach

Red cell pyruvate kinase deficiency: molecular and clinical aspects

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

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

Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan

Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections

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

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

Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency: a prevalence study in Quebec (Canada)

Hereditary nonspherocytic hemolytic anemia with a high level of membraneous Mg++-ATPase: lipohepato-diabeto-hemolytic syndrome

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Two cases in a family with new variants of glucose phosphate isomerase deficiency (author's transl)

Two cases of pyruvate kinase variants (author's transl)

Clinical Features and Biochemical Aspects of Red Blood Cells in Hb Hirosaki

A family of new glucose 6-phosphate dehydrogenase (G 6 PD) variant associated with chronic nonspherocytic hemolytic anemia: G 6 PD Kurume (author's transl)

Congenital nonspherocytic hemolytic anemia with increased activity of erythrocyte ATP-ase

Report of a family with congenital non-spherocytic haemolytic anemia due to functionally abnormal pyruvate-kinase

Case of congenital nonspherocytic hemolytic anemia

PGK deficiency

Metabolic flux response to phosphoglucose isomerase knock-out in Escherichia coli and impact of overexpression of the soluble transhydrogenase UdhA

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