Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis

G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications

(2013) Lucio Luzzatto et al.   BRITISH JOURNAL OF HAEMATOLOGY

Inborn defects in the antioxidant systems of human red blood cells

(2013) Rob van Zwieten et al.   FREE RADICAL BIOLOGY AND MEDICINE

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

(2012) Elisa Fermo et al.   MOLECULAR GENETICS AND METABOLISM

A novel cytofluorometric assay for the detection and quantification of glucose-6-phosphate dehydrogenase deficiency

(2012) Shivang S. Shah et al.   Scientific Reports

Triosephosphate isomerase deficiency: New insights into an enigmatic disease

(2009) Ferenc Orosz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The global prevalence of glucose-6-phosphate dehydrogenase deficiency: A systematic review and meta-analysis

(2009) Ella T. Nkhoma et al.   BLOOD CELLS MOLECULES AND DISEASES

First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis

(2009) K. M.K. de Vooght et al.   HAEMATOLOGICA

Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

(2009) Ronen Spiegel et al.   NEUROMUSCULAR DISORDERS

Effects of inherited mutations on catalytic activity and structural stability of human glucose-6-phosphate isomerase expressed in Escherichia coli

(2008) Hua-Yang Lin et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Glucose-6-phosphate dehydrogenase deficiency

(2008) MD Cappellini et al.   LANCET