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Red blood cell PK deficiency: An update of PK-LR gene mutation database

Blood cells, molecules, & diseases, 2016-03, Vol.57, p.100-109

2016

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Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin

Blood cells, molecules, & diseases, 2018-03, Vol.69, p.23-29

2018

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Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

Blood cells, molecules, & diseases, 2016-09, Vol.60, p.18-23

2016

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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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Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers

Blood cells, molecules, & diseases, 2010-01, Vol.44 (1), p.62-68

2010

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A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia—characterization of enzyme using yeast expression system and molecular modeling

Blood cells, molecules, & diseases, 2004-01, Vol.32 (1), p.124-130

2004

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Glucosephosphate Isomerase (GPI) Deficiency Mutations Associated with Hereditary Nonspherocytic Hemolytic Anemia (HNSHA)

Blood cells, molecules, & diseases, 1997-12, Vol.23 (3), p.402-409

1997

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Hematologically Important Mutations: Red Cell Pyruvate Kinase (Third Update)

Blood cells, molecules, & diseases, 2000-02, Vol.26 (1), p.47-53

2000

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A New Exon 9 Glucose-6-phosphate Dehydrogenase Mutation (G6PD “Rehovot”) in a Jewish Ethiopian Family with Variable Phenotypes

Blood cells, molecules, & diseases, 2000-12, Vol.26 (6), p.567-571

2000

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Hematologically Important Mutations: Red Cell Pyruvate Kinase (2ndupdate)

Blood cells, molecules, & diseases, 1998-09, Vol.24 (3), p.273-279

1998

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Hexokinase Mutations that Produce Nonspherocytic Hemolytic Anemia

Blood cells, molecules, & diseases, 1995-01, Vol.21 (1), p.2-8

1995

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Study of the Molecular Defects in Pyruvate Kinase Deficient Patients Affected by Nonspherocytic Hemolytic Anemia

Blood cells, molecules, & diseases, 1995-01, Vol.21 (1), p.49-55

1995

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Three New Exon 10 Glucose-6-Phosphate Dehydrogenase Mutations

Blood cells, molecules, & diseases, 1995, Vol.21 (1), p.64-72

1995

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Molecular Abnormality of a Phosphoglycerate Kinase Variant (PGK-Alabama)

Blood cells, molecules, & diseases, 1995, Vol.21 (3), p.179-181

1995

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Severe Jaundice in a Patient with a Previously Undescribed Glucose-6-phosphate Dehydrogenase (G6PD) Mutation and Gilbert Syndrome

Blood cells, molecules, & diseases, 2002-03, Vol.28 (2), p.104-107

2002

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Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome

Blood cells, molecules, & diseases, 2003-05, Vol.30 (3), p.258-263

2003

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Expression and Enzymatic Characterization of Human Glucose Phosphate Isomerase (GPI) Variants Accounting for GPI Deficiency

Blood cells, molecules, & diseases, 1998-03, Vol.24 (1), p.54-61

1998

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Hematologically Important Mutations: Molecular Abnormalities of Glucose Phosphate Isomerase Deficiency

Blood cells, molecules, & diseases, 1996, Vol.22 (2), p.96-97

1996

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Red blood cell PK deficiency: An update of PK-LR gene mutation database

Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

Molecular and clinical heterogeneity in pyruvate kinase deficiency in India

Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers

A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia—characterization of enzyme using yeast expression system and molecular modeling

Glucosephosphate Isomerase (GPI) Deficiency Mutations Associated with Hereditary Nonspherocytic Hemolytic Anemia (HNSHA)

Hematologically Important Mutations: Red Cell Pyruvate Kinase (Third Update)

A New Exon 9 Glucose-6-phosphate Dehydrogenase Mutation (G6PD “Rehovot”) in a Jewish Ethiopian Family with Variable Phenotypes

Hematologically Important Mutations: Red Cell Pyruvate Kinase (2ndupdate)

Hexokinase Mutations that Produce Nonspherocytic Hemolytic Anemia

Study of the Molecular Defects in Pyruvate Kinase Deficient Patients Affected by Nonspherocytic Hemolytic Anemia

Three New Exon 10 Glucose-6-Phosphate Dehydrogenase Mutations

Molecular Abnormality of a Phosphoglycerate Kinase Variant (PGK-Alabama)

Severe Jaundice in a Patient with a Previously Undescribed Glucose-6-phosphate Dehydrogenase (G6PD) Mutation and Gilbert Syndrome

Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome

Expression and Enzymatic Characterization of Human Glucose Phosphate Isomerase (GPI) Variants Accounting for GPI Deficiency

Hematologically Important Mutations: Molecular Abnormalities of Glucose Phosphate Isomerase Deficiency

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