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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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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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Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios

British journal of haematology, 2014-05, Vol.165 (4), p.556-563

2014

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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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Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: The first report from India

Hematology (Luxembourg), 2014-06, Vol.19 (4), p.199-201

2014

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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 haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease

European journal of haematology, 2010-01, Vol.84 (1), p.89-90

2010

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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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Molecular characterization of the PK‐LR gene in sixteen pyruvate kinase‐deficient patients

British journal of haematology, 2001-04, Vol.113 (1), p.43-48

2001

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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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G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia

Human mutation, 1997, Vol.10 (3), p.245-247

1997

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Membrane fluidity of blood cells

Haematologia, 1996, Vol.27 (3), p.109

Hollán, S

1996

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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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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 Nonspherocytic Hemolytic Anemia due to a New Hexokinase Variant With Reduced Stability

Blood, 1985-09, Vol.66 (3), p.690-697

1985

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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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Pyrimidine 5'-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia

Deutsche medizinische Wochenschrift, 1993-09, Vol.118 (36), p.1276-1280

1993

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Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden

Acta haematologica, 1990, Vol.83 (4), p.206

1990

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Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP): molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum

Human genetics, 1989, Vol.81 (2), p.161-164

1989

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Köln hemoglobinopathy: 3 patients in one Russian family

Terapevtic̆eskii arhiv, 1993, Vol.65 (7), p.45

1993

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A family with mild hereditary xerocytosis showing high membrane cation permeability at low temperatures

Clinical science (1979), 1985-09, Vol.69 (3), p.309

1985

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Chronic Nonspherocytic Hemolytic Anemia and G6PD Deficiency

Hospital Practice, 1991-09, Vol.26 (9), p.57-70

Jaffé, Ernst R.

1991

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G‐6‐PD Walter Reed: Possible insight into “structural” NADP in G‐6‐PD

American journal of hematology, 1986-09, Vol.23 (1), p.25-30

1986

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Familial nonspherocytic hemolytic anemia in poodles

American journal of veterinary research, 1986-03, Vol.47 (3), p.687

1986

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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

Red cell pyruvate kinase deficiency: molecular and clinical aspects

Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios

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

Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: The first report from India

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

Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease

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

Molecular characterization of the PK‐LR gene in sixteen pyruvate kinase‐deficient patients

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)

G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia

Membrane fluidity of blood cells

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

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

Hereditary Nonspherocytic Hemolytic Anemia due to a New Hexokinase Variant With Reduced Stability

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

Pyrimidine 5'-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia

Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden

Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP): molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum

Köln hemoglobinopathy: 3 patients in one Russian family

A family with mild hereditary xerocytosis showing high membrane cation permeability at low temperatures

Chronic Nonspherocytic Hemolytic Anemia and G6PD Deficiency

G‐6‐PD Walter Reed: Possible insight into “structural” NADP in G‐6‐PD

Familial nonspherocytic hemolytic anemia in poodles

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