Krabbe disease: the importance of early diagnosis for prognosis
Krabbe disease (globoid cell leukodystrophy) is an inherited recessiveautosomal leukodystrophy caused by deficiency of the enzymegalactocerebrosidase. The lack of this enzyme leads to the build-up ofgalactolipids that will promote the death of oligodendrocytes and thedemyelination of the central and...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Instituto Israelita de Ensino e Pesquisa Albert Einstein
2012-06-01
|
| Series: | Einstein (São Paulo) |
| Subjects: | |
| Online Access: | http://apps.einstein.br/revista/arquivos/PDF/2353-233-235.pdf |