Orphanet journal of rare diseases 2017 https://researcherprofiles.org/profile/118043128 28464912 Muenzer J, Jones SA, Tylki-Szymanska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH