Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease

Abstract

Sirs: Krabbe disease (KD) is a rare autosomal recessive disorder due to a diminished activity of the lysosomal enzyme galactocerebrosidase (GALC) [7, 13]. The demonstration of a severe deficiency in GALC activity in leukocytes or fibroblasts is the basis for diagnosis. The human GALC gene (mapped to chromosome 14q24.3– q32.1, see [14] for details) has been… (More)
DOI: 10.1007/s004150050571

Topics

Cite this paper

@article{Stefano2000EvidenceOD, title={Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease}, author={Nicola De Stefano and M. T. Dotti and Marzia Mortilla and Elena Pappagallo and Paolo Luzi and Mohmed Rafi and Patrizia Formichi and Domenico Inzitari and David A. Wenger and A. Federico}, journal={Journal of Neurology}, year={2000}, volume={247}, pages={226-228} }