Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

@article{Wraith2009NaturalHO,
  title={Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.},
  author={James Edward Wraith and Nathalie Guffon and Marianne Rohrbach and Wen-song Hwu and Georg Christoph Korenke and Bruno Bembi and C{\'e}cile Luzy and Ruben Giorgino and Fr{\'e}d{\'e}ric Sedel},
  journal={Molecular genetics and metabolism},
  year={2009},
  volume={98 3},
  pages={
          250-4
        }
}
Niemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by progressive neurological deterioration. However, data on the progression of neurological manifestations, particularly across different patient age-of-disease onsets, are limited. This is an observational retrospective cohort study designed to assess the progression of neurological disease in patients with NP-C. Physicians were asked to retrospectively complete a web-based questionnaire for each patient, at… CONTINUE READING
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