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Orphanet Journal of Rare Diseases|January 24, 2018
The importance of genotype-phenotype correlation in the clinical management of Marfan syndromeVíctor Manuel Becerra-Muñoz, Juan José Gómez-Doblas, Carlos Porras-Martín, et al.
Orphanet Journal of Rare Diseases|October 28, 2017
Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in childrenHui Liu, Jinrong Liu, Huimin Li, et al.
Orphanet Journal of Rare Diseases|January 27, 2018
PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseasesAngela Adler, Pia Kirchmeier, Julian Reinhard, et al.
Orphanet Journal of Rare Diseases|February 2, 2018
Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDRTrevor Richter, Ghayath Janoudi, William Amegatse, et al.
Orphanet Journal of Rare Diseases|December 30, 2017
Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluationJohn W Frew, Mark Davidson, Dedee F Murrell
Orphanet Journal of Rare Diseases|February 19, 2018
Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathyStéphanie Leruez, Christophe Verny, Dominique Bonneau, et al.
Orphanet Journal of Rare Diseases|March 7, 2018
Programmed Sports Therapy (PST) in People with Haemophilia (PwH) "Sports Therapy Model for Rare Diseases"Thomas Hilberg
Orphanet Journal of Rare Diseases|December 22, 2017
Receptor of ghrelin is expressed in cutaneous neurofibromas of individuals with neurofibromatosis 1Rafaela E Rozza-de-Menezes, Nicolle C Gaglionone, Raquel M Andrade-Losso, et al.
Orphanet Journal of Rare Diseases|January 29, 2018
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiencyMaja Di Rocco, Livia Pisciotta, Annalisa Madeo, et al.
Orphanet Journal of Rare Diseases|January 31, 2018
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, et al.
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