Article

Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)

2021-09-28

Abstract excerpt

<title>Abstract</title> <p>Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the natural history of the disease. Here we report NPC patient data from the International Niemann-Pick Disease Registry (INPDR). Method The INPDR is...

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Literature Corpus work: a03df8a1-0a3c-519f-8ec8-4e910436e2cb
DOI: 10.21203/rs.3.rs-934191/v1

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