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

BMC Neurology

Volumn 15, Issue 1, 2015, Pages

  Imrie, Jackie ^a   Heptinstall, Lesley ^b   Knight, Stephen ^b   Strong, Kate ^c  

^a NPUK   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c The Care Forum   (United Kingdom)

Author keywords

Miglustat; Natural history; Niemann Pick disease type C; NPC1 NPC2

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; FACTUAL DATABASE; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HISTORY; HUMAN; MAJOR CLINICAL STUDY; MALE; NIEMANN PICK DISEASE; OBSERVATIONAL STUDY; PHENOTYPIC VARIATION; UNITED KINGDOM; ADOLESCENT; DISEASE COURSE; GENETICS; GREAT BRITAIN; INFANT; MUTATION; NIEMANN-PICK DISEASE, TYPE C; ONSET AGE; PRESCHOOL CHILD; YOUNG ADULT;

CARRIER PROTEIN; GLYCOPROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; NPC2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE OF ONSET; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; GLYCOPROTEINS; GREAT BRITAIN; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C; YOUNG ADULT;

EID: 84949675593     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/s12883-015-0511-1     Document Type: Article

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