Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood Emmanuel Gonzales, Lorenza Matarazzo, Stéphanie Franchi-Abella, Alain Dabadie, Joseph Cohen, Dalila Habes, Sophie Hillaire, Catherine Guettier, Anne-Marie Taburet, Anne Myara and Emmanuel Jacquemin Orphanet Journal of Rare Diseases 2018, 13:190 | Published on: 29 October 2018 Full Text | PDF RESEARCH Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula and Laurence M. Boon Orphanet Journal of Rare Diseases 2018, 13:191 | Published on: 29 October 2018 Full Text | PDF

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