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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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Pyruvate kinase deficiency in children

Pediatric blood & cancer, 2021-09, Vol.68 (9), p.e29148-n/a

2021

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Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias

European journal of haematology, 2018-09, Vol.101 (3), p.297-304

2018

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Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

American journal of hematology, 2020-05, Vol.95 (5), p.472-482

2020

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A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

Journal of medical case reports, 2022-02, Vol.16 (1), p.66-66, Article 66

2022

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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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Red cell pyruvate kinase deficiency in Spain: A study of 15 cases

Medicina clinica, 2017-01, Vol.148 (1), p.23

2017

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Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene

International journal of hematology, 2012-08, Vol.96 (2), p.263-267

2012

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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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Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi

Annals of hematology, 2011-07, Vol.90 (7), p.769-775

2011

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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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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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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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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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Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

Human mutation, 1999-12, Vol.14 (6), p.477-484

1999

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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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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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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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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 basis of chronic non‐spherocytic haemolytic anaemia: a new G6PD variant (393 Arg→His) with abnormal KmG6P and marked in vivo instability

British journal of haematology, 1992-01, Vol.80 (1), p.111-116

1992

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Biochemical characterization of four new erythrocyte pyruvate kinase variants

Acta haematologica, 1994, Vol.92 (2), p.91

1994

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Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase “deficiency”

The American journal of medicine, 1987-11, Vol.83 (5), p.899-904

1987

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Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a japanese family

American journal of hematology, 1981-12, Vol.11 (4), p.425-437

1981

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Glucose 6-phosphate dehydrogenase variants: a unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge

Human genetics, 1981-10, Vol.58 (4), p.405-407

1981

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Nonrecessively Transmitted Nonspherocytic Hereditary Haemolytic Anaemia Associated with Increased Red Cell Glutathione

British journal of haematology, 1979-06, Vol.42 (2), p.231-237

1979

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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

Pyruvate kinase deficiency in children

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

Molecular and clinical heterogeneity in pyruvate kinase deficiency in India

Red cell pyruvate kinase deficiency in Spain: A study of 15 cases

Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene

Triosephosphate Isomerase Deficiency: A Patient With Val231Met Mutation

Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi

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

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

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

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

Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

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

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

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

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

Molecular basis of chronic non‐spherocytic haemolytic anaemia: a new G6PD variant (393 Arg→His) with abnormal KmG6P and marked in vivo instability

Biochemical characterization of four new erythrocyte pyruvate kinase variants

Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase “deficiency”

Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a japanese family

Glucose 6-phosphate dehydrogenase variants: a unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge

Nonrecessively Transmitted Nonspherocytic Hereditary Haemolytic Anaemia Associated with Increased Red Cell Glutathione

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