Consensus clinical management guidelines for Niemann-Pick disease type C

• Published in: Orphanet journal of rare diseases Vol. 13; no. 1; p. 50
• Main Authors: Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T, Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J, Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A, Ory, Daniel, Bembi, Bruno, Patterson, Marc
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 06.04.2018; BioMed Central; BMC
• Subjects: Analysis; Care and treatment; Diagnosis; Gene mutations; Guidelines; Humans; Management; Medical care; Niemann-Pick Disease, Type C - therapy; Niemann-Pick Type C; NPC; Patients; Pick's disease; Practice guidelines (Medicine); Practice Guidelines as Topic; Quality management; Review; NPC; Niemann-Pick Type C; Diagnosis; Management; Guidelines

Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in th...