Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Imrie, Jackie

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. [electronic resource] - BMC neurology Dec 2015 - 257 p. digital

Publication Type: Journal Article; Observational Study; Research Support, Non-U.S. Gov't

1471-2377

10.1186/s12883-015-0511-1 doi


Adolescent
Adult
Age of Onset
Carrier Proteins--genetics
Child
Child, Preschool
Cohort Studies
Disease Progression
Female
Follow-Up Studies
Glycoproteins--genetics
Humans
Infant
Intracellular Signaling Peptides and Proteins
Male
Membrane Glycoproteins--genetics
Mutation
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C--epidemiology
United Kingdom--epidemiology
Vesicular Transport Proteins
Young Adult