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Orphanet Journal of Rare Diseases|November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.
Gut|March 9, 2016
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's diseaseTobias Schwerd, Sumeet Pandey, Huei-Ting Yang, et al.
Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, et al.
The Journal of Clinical Investigation|February 4, 2014
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarkerDanielle te Vruchte, Anneliese O Speak, Kerri L Wallom, et al.
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