Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C


VOLNÝ Ondřej JAHNOVÁ Helena BAREŠ Martin

Year of publication 2016
Type Article in Periodical
Magazine / Source Basal Ganglia
MU Faculty or unit

Faculty of Medicine

Field Neurology, neurosurgery, neurosciences
Keywords Adult onset; Disease modifying therapy; Miglustat; Niemann-Pick type C
Description 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.

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