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]
Producer: 20160714Description: 257 p. digitalISSN:- 1471-2377
- 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
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Publication Type: Journal Article; Observational Study; Research Support, Non-U.S. Gov't
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