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Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry

British journal of haematology, 2024-08, Vol.205 (2), p.613-623

2024

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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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Glucose 6‐phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non‐spherocytic haemolytic anaemia

British journal of haematology, 2010-04, Vol.149 (2), p.296-297

2010

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PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

British journal of haematology, 2004-11, Vol.127 (3), p.364-366

2004

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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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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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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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Molecular genetics of glucose‐6‐phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene

British journal of haematology, 1995-09, Vol.91 (1), p.66-71

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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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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Non‐spherocytic Haemolytic Anaemia in Mother and Son Associated with Hexokinase Deficiency

British journal of haematology, 1980-12, Vol.46 (4), p.537-547

1980

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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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HEREDITARY ANAEMIAS IN LABORATORY ANIMALS

British journal of haematology, 1976-03, Vol.32 (3), p.299-308

1976

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Nonspherocytic Haemolytic Anaemia with Increased Red Cell Adenine Nucleotides, Glutathione and Basophilic Stippling and Ribosephosphate Pyrophosphokinase (RPK) Deficiency: Studies on Two New Kindreds

British journal of haematology, 1973-02, Vol.24 (2), p.157-167

1973

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Köln Haemoglobinopathy: FURTHER DATA AND A COMPARISON WITH OTHER HEREDITARY HEINZ BODY ANAEMIAS

British journal of haematology, 1967-05, Vol.13 (3), p.394-408

1967

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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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Molecular characterisation of pyruvate kinase deficiency – concerns about the description of mutant PKLR alleles

British journal of haematology, 2007-01, Vol.136 (1), p.167-169

2007

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Seven Pyruvate Kinase Variants Characterized by the ICSH Recommended Methods

British journal of haematology, 1980-08, Vol.45 (4), p.575-583

1980

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Three Pyruvate Kinase Variants with Increased Affinity for PEP

British journal of haematology, 1981-03, Vol.47 (3), p.371-381

1981

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Haemolytic Anaemia Associated with Glucosephosphate Isomerase (GPI) Deficiency in a Black South African Child

British journal of haematology, 1977-11, Vol.37 (3), p.363-391

1977

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Metabolic Aspects of Red Cells in Congenital Non‐Spherocytic Haemolytic Anaemia

British journal of haematology, 1964-01, Vol.10 (1), p.23-35

1964

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Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry

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

Glucose 6‐phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non‐spherocytic haemolytic anaemia

PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

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

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

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

Molecular genetics of glucose‐6‐phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene

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

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

Non‐spherocytic Haemolytic Anaemia in Mother and Son Associated with Hexokinase Deficiency

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

HEREDITARY ANAEMIAS IN LABORATORY ANIMALS

Nonspherocytic Haemolytic Anaemia with Increased Red Cell Adenine Nucleotides, Glutathione and Basophilic Stippling and Ribosephosphate Pyrophosphokinase (RPK) Deficiency: Studies on Two New Kindreds

Köln Haemoglobinopathy: FURTHER DATA AND A COMPARISON WITH OTHER HEREDITARY HEINZ BODY ANAEMIAS

PGK deficiency

Molecular characterisation of pyruvate kinase deficiency – concerns about the description of mutant PKLR alleles

Seven Pyruvate Kinase Variants Characterized by the ICSH Recommended Methods

Three Pyruvate Kinase Variants with Increased Affinity for PEP

Haemolytic Anaemia Associated with Glucosephosphate Isomerase (GPI) Deficiency in a Black South African Child

Metabolic Aspects of Red Cells in Congenital Non‐Spherocytic Haemolytic Anaemia

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