Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2014

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Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation ... http://t.co/oRwIkbZ829

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