DOI:
10.1055/s-00029030
Journal of Pediatric Neurology
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References
Ribeiro I, Marcão A, Amaral O, Sá Miranda MC, Vanier MT, Millat G.
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
Hum Genet 2001;
109 (01) 24-32
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