Niemann-Pick disease Type C

The journal Molecular Genetics and Metabolism has published an article about Niemann-Pick disease Type C. Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progressive neurovisceral symptomatology. Typically, disease progression is more pronounced in patients with early onset of neurological symptoms. Heterogeneous clinical presentation may hinder disease recognition and lead to delays in diagnosis. The full-text article you can find here.