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...

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Bibliographic Details
Main Authors: M. Mañú Pereira, T. Gelbart, E. Ristoff, K.C. Crain, J.M. Bergua, A. López Lafuente, S.G. Kalko, E. García Mateos, E. Beutler, J.L. Vives Corrons
Format: Article
Language:English
Published: Ferrata Storti Foundation 2007-11-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/4647