Niemann-Pick Children's Fund, Inc » Willink Biochemical Genetics Unit http://www.npcfund.org "They Only Have A Childhood To Live A Lifetime" Sat, 17 Dec 2011 04:41:28 +0000 en hourly 1 http://wordpress.org/?v=3.2.1 New therapies – Niemann-Pick type C disease http://www.npcfund.org/blog/new-therapies-niemann-pick-type-c-disease/ http://www.npcfund.org/blog/new-therapies-niemann-pick-type-c-disease/#comments Sat, 21 Nov 2009 16:13:37 +0000 Michael G Stults http://www.npcfund.org/?p=180
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    • ]]>     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.

    Read the full abstract here.


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