Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Author:

Schwerd Tobias,Pandey Sumeet,Yang Huei-Ting,Bagola Katrin,Jameson Elisabeth,Jung Jonathan,Lachmann Robin H,Shah Neil,Patel Smita Y,Booth Claire,Runz Heiko,Düker Gesche,Bettels Ruth,Rohrbach Marianne,Kugathasan Subra,Chapel Helen,Keshav Satish,Elkadri Abdul,Platt Nick,Muise Alexio M,Koletzko Sibylle,Xavier Ramnik J,Marquardt Thorsten,Powrie Fiona,Wraith James E,Gyrd-Hansen Mads,Platt Frances M,Uhlig Holm H

Publisher

BMJ

Subject

Gastroenterology

Reference58 articles.

1. Niemann-Pick disease type C;Vanier;Orphanet J Rare Dis,2010

2. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium;Lloyd-Evans;Nat Med,2008

3. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat;Walterfang;Orphanet J Rare Dis,2012

4. Long-term miglustat therapy in children with Niemann-Pick disease type C;Patterson;J Child Neurol,2010

5. Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C;Héron;Orphanet J Rare Dis,2012

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