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Article

Disease and patient characteristics in NP-C patients: findings from an international disease registry.

Orphanet journal of rare diseases - 16 Jan 2013

Patterson Marc C, Mengel Eugen, Wijburg Frits A, Muller Audrey, Schwierin Barbara, Drevon Harir, Vanier Marie T, Pineda Mercé

Abstract excerpt

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. We report data recorded at enrolment in an ongoing international NP-C registry initiated in September 2009 to describe disease natural history, clinical course and treatment experience of NP-C patients in clinical practice settings. METHODS: The NPC Registry is a...

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PMID: 23324478
DOI: 10.1186/1750-1172-8-12
PMCID: PMC3558399

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