Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

The aim of this study was to describe the clinical and biological features of Mevalonate kinase deficiency (MKD) in patients diagnosed in adulthood. This is a French and Belgian observational retrospective study from 2000 to 2014. To constitute the cohort, we cross-check the genetic and biochemical...

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Detalles Bibliográficos
Autores principales: Durel, Cécile-Audrey, Aouba, Achille, Bienvenu, Boris, Deshayes, Samuel, Coppéré, Brigitte, Gombert, Bruno, Acquaviva-Bourdain, Cécile, Hachulla, Eric, Lecomte, Frédéric, Touitou, Isabelle, Ninet, Jacques, Philit, Jean-Baptiste, Messer, Laurent, Brouillard, Marc, Girard-Madoux, Marie-Hélène, Moutschen, Michel, Raison-Peyron, Nadia, Hutin, Pascal, Duffau, Pierre, Trolliet, Pierre, Hatron, Pierre-Yves, Heudier, Philippe, Cevallos, Ramiro, Lequerré, Thierry, Brousse, Valentine, Lesire, Vincent, Audia, Sylvain, Maucort-Boulch, Delphine, Cuisset, Laurence, Hot, Arnaud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
3600
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839898/
https://www.ncbi.nlm.nih.gov/pubmed/26986117
http://dx.doi.org/10.1097/MD.0000000000003027

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