Title : Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.

Pub. Date : 2001 Feb

PMID : 11167850






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 In four unrelated patients with chronic haemolysis and markedly reduced red blood cell (RBC) glutathione (49.5%, 12.6%, 11.5% and 15% of the normal concentration respectively), a severe glutathione synthetase (GSH-S, EC 6.3.2.3) deficiency was found. Glutathione glutathione synthetase Homo sapiens