Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to γ-glutamylcysteine synthetase deficiency in a patient of Moroccan origin
A previously undescribed mutation of hereditary γ-glutamylcysteine synthetase (GCS) deficiency was found in a 5 year old boy of Moroccan origin. He presented with chronic haemolytic anaemia, delayed psychomotor development and progressive motor sensitive neuropathy of lower extremities. The parents...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Ferrata Storti Foundation
2007-11-01
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Series: | Haematologica |
Online Access: | https://haematologica.org/article/view/4647 |