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Niemann-Pick disease type C or Gaucher’s disease type 3? A clinical conundrum
We describe a patient who presented with a neurovisceral syndrome characterised by ataxia, bulbar dysfunction, supranuclear gaze palsy, splenomegaly and foamy histiocytes in the bone marrow. This presentation was suggestive of a lysosomal storage disorder such as Niemann-Pick disease type C or Gauch...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4024964/ https://ncbi.nlm.nih.gov/pubmed/24811560 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-203713 |
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