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NEJM 347:672-680, Case 27-2002, 2002
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
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Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
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