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Orphanet Journal of Rare Diseases|June 17, 2015
Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean feverFawaz Awad, Sophie Georgin-Lavialle, Anne Brignier, et al.
Orphanet Journal of Rare Diseases|June 13, 2015
ALG8-CDG: novel patients and review of the literatureMichaela Höck, Karina Wegleiter, Elisabeth Ralser, et al.
Orphanet Journal of Rare Diseases|June 6, 2015
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophyMariana Gutierrez, Isabelle Thiffault, Kether Guerrero, et al.
Orphanet Journal of Rare Diseases|August 14, 2016
Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemiaCharlotte Cuerq, Lioara Restier, Jocelyne Drai, et al.
Orphanet Journal of Rare Diseases|January 24, 2018
Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseasesSusan Stein, Elizabeth Bogard, Nicole Boice, et al.
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
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