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.

Autor: Imrie, Jackie¹ jackie@niemann-pick.org.uk, Heptinstall, Lesley², Knight, Stephen², Strong, Kate³

Publikováno v: BMC Neurology. 12/15/2015, Vol. 15 Issue 1, p1-23. 23p. 7 Charts, 2 Graphs.

Additional file 1: Table S1. of 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

Autor: Imrie, Jackie, Heptinstall, Lesley, Knight, Stephen, Strong, Kate

Comparison of sibling profiles. (DOCX 42 kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78de87c29ae81ff7180d92072ce9e93e

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Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.

Autor: Breen C; Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK., Mercer J; Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK., Jones SA; Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK., Jahic A; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany., Heptinstall L; Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK., Tylee K; Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK., Newman WG; Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK., Beetz C; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany.

Publikováno v: Human genome variation [Hum Genome Var] 2016 Oct 06; Vol. 3, pp. 16031. Date of Electronic Publication: 2016 Oct 06 (Print Publication: 2016).