Informace o publikaci
Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C
| Autoři | |
|---|---|
| Rok publikování | 2016 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Basal Ganglia |
| Fakulta / Pracoviště MU | |
| Citace | |
| Doi | https://doi.org/10.1016/j.baga.2016.02.003 |
| Obor | Neurologie, neurochirurgie, neurovědy |
| Klíčová slova | Adult onset; Disease modifying therapy; Miglustat; Niemann-Pick type C |
| Popis | We present a case report of a patient with adult-onset Niemann-Pick disease type C (NPC), emphasizing an interdisciplinary approach to diagnosis and treatment. The patient is a compound heterozygote for two different mutations in the NPC1 gene, described for the first time in a Czech NPC cohort. |