At a glance: the largest Niemann-Pick type C1 cohort with 602
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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR), Orphanet Journal of Rare Diseases
3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport
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