Authors: Sacha Ferdinandusse; Hans R Waterham; Simon J R Heales; Garry K Brown; Iain P Hargreaves; Jan-Willem Taanman; Roxana Gunny; Lara Abulhoul; Ronald J A Wanders; Peter T Clayton; James V Leonard; Shamima Rahman Journal: Orphanet J Rare Dis Date: 2013-12-04 Impact factor: 4.123