Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.
Niemann-Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a primary cholesterol storage disorder, a variety of glycolipids accumulate in NP-C cells, which resemble those from glycosphingolipidosis patients. Substrate reduction therapy...
| Principais autores: | , , , , , , , , , |
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| Formato: | Journal article |
| Idioma: | English |
| Publicado em: |
2004
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