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Orphanet Journal of Rare Diseases|May 30, 2012
Clinical guidelines for the management of craniofacial fibrous dysplasiaJ S Lee, E J FitzGibbon, Y R Chen, et al.Orphanet Journal of Rare Diseases|May 30, 2012
McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasiaMichael T Collins, Frederick R Singer, Erica EugsterOrphanet Journal of Rare Diseases|August 8, 2013
Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trialBjorn W H van Heumen, Hennie M J Roelofs, M Elisa Vink-Börger, et al.Orphanet Journal of Rare Diseases|August 8, 2013
A mutation in the c-fos gene associated with congenital generalized lipodystrophyBirgit Knebel, Jorg Kotzka, Stefan Lehr, et al.Orphanet Journal of Rare Diseases|November 4, 2011
Spinal muscular atrophyAdele D'Amico, Eugenio Mercuri, Francesco D Tiziano, et al.Orphanet Journal of Rare Diseases|November 2, 2011
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patientsBouwien E Smid, Saskia M Rombach, Johannes M F G Aerts, et al.Orphanet Journal of Rare Diseases|September 1, 2011
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutationsKirstine Ravn, Gitte Roende, Morten Duno, et al.Orphanet Journal of Rare Diseases|August 12, 2011
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedureMinke H de Ru, Jaap J Boelens, Anibh M Das, et al.Orphanet Journal of Rare Diseases|August 3, 2011
Evaluation of SHOX copy number variations in patients with Müllerian aplasiaMaria Sandbacka, Mervi Halttunen, Varpu Jokimaa, et al.Pageof 479