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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Veröffentlicht in:	Medicine (Baltimore) 2016-03, Vol.95 (11), p.e3027-e3027
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Belgium - epidemiology Female France - epidemiology General & internal medicine Human health sciences Humans Life Sciences Male Mevalonate Kinase Deficiency - complications Mevalonate Kinase Deficiency - drug therapy Mevalonate Kinase Deficiency - epidemiology Mevalonate Kinase Deficiency/complications/drug therapy/epidemiology Middle Aged Médecine générale & interne Observational Study Retrospective Studies Sciences de la santé humaine Young Adult
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