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

Author:

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

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference47 articles.

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2. Hereditary periodic fever;Drenth;N Engl J Med,2001

3. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome;Houten;Nat Genet,1999

4. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group;Drenth;Nat Genet,1999

5. Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency;Henneman;J Inherit Metab Dis,2010

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