Late-onset globoid cell leukodystrophy
✍ Scribed by A. Fiumara; L. Pavone; L. Siciliano; A. Tinè; E. Parano; G. Innico
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 937 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0256-7040
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📜 SIMILAR VOLUMES
Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Although the severe, rapidly progressing infantile form is the most common, late-onset forms have been described. We investigated the molecular basis of G
In the present study the clinical course and imaging of early and late-onset forms of Krabbe disease are analyzed. We report on 11 patients with a biochemical diagnosis of galactosyl ceramide P-galactoside deficiency. T w o presented as the classic infantile form and died within the second year of l