New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Authors: James E Wraith, Jackie Imrie
Published Date November 2009
James E Wraith, Jackie Imrie
Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK
Abstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in various tissues, particularly the brain.
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