Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele

Overview of attention for article published in Journal of Inborn Errors of Metabolism and Screening, November 2015

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Article in Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids (April 2019)

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