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Orphanet Journal of Rare Diseases|June 1, 2010
Diagnosis and mortality in 47,XYY persons: a registry studyKirstine Stochholm, Svend Juul, Claus H GravholtOrphanet Journal of Rare Diseases|July 16, 2010
Hereditary combined deficiency of the vitamin K-dependent clotting factorsMariasanta Napolitano, Guglielmo Mariani, Mario LapecorellaOrphanet Journal of Rare Diseases|June 12, 2010
Congenital hypothyroidismMaynika V Rastogi, Stephen H LaFranchiOrphanet Journal of Rare Diseases|December 18, 2010
Toxic epidermal necrolysis and Stevens-Johnson syndromeThomas Harr, Lars E FrenchOrphanet Journal of Rare Diseases|April 14, 2011
Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysemaIgnacio Blanco, Beatriz Lara, Frederick de SerresOrphanet Journal of Rare Diseases|May 31, 2019
The role of patient organizations in the rare disease ecosystem in India: an interview based studyMohua Chakraborty Choudhury, Gayatri SaberwalOrphanet Journal of Rare Diseases|June 9, 2019
Occupational therapy for epidermolysis bullosa: clinical practice guidelinesJennifer M Chan, Amy Weisman, Alex King, et al.Orphanet Journal of Rare Diseases|June 9, 2019
Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1M Judith Peterschmitt, Selena Freisens, Lisa H Underhill, et al.Orphanet Journal of Rare Diseases|June 23, 2019
Treatment with metformin in twelve patients with Lafora diseaseFrancesca Bisulli, Lorenzo Muccioli, Giuseppe d'Orsi, et al.Orphanet Journal of Rare Diseases|June 21, 2019
Treatment of Satoyoshi syndrome: a systematic reviewJulián Solís-García Del Pozo, Carlos de Cabo, Javier SoleraPageof 477