The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

Author:

ter Haar Nienke M.1,Jeyaratnam Jerold1,Lachmann Helen J.2,Simon Anna3,Brogan Paul A.4,Doglio Matteo5,Cattalini Marco6,Anton Jordi7,Modesto Consuelo8,Quartier Pierre9,Hoppenreijs Esther3,Martino Silvana10,Insalaco Antonella11,Cantarini Luca12,Lepore Loredana13,Alessio Maria14,Calvo Penades Inmaculada15,Boros Christina16,Consolini Rita17,Rigante Donato18,Russo Ricardo19,Pachlopnik Schmid Jana20,Lane Thirusha2,Martini Alberto21,Ruperto Nicolino5,Frenkel Joost1,Gattorno Marco5,

Affiliation:

1. University Medical Center Utrecht; Utrecht The Netherlands

2. University College London Medical School; London UK

3. Radboud University Medical Center; Nijmegen The Netherlands

4. University College London and Great Ormond Street Hospital NHS Foundation Trust; London UK

5. Istituto Giannina Gaslini; Genoa Italy

6. University of Brescia and Spedali Civili di Brescia; Brescia Italy

7. Hospital Sant Joan de Déu, University of Barcelona; Barcelona Spain

8. Hospital Valle de Hebron; Barcelona Spain

9. Université Paris-Descartes, Hôpital Necker-Enfants Malades; Paris France

10. Clinica Pediatrica Università di Torino, Day-Hospital Immuno-reumatologia; Turin Italy

11. Ospedale Pediatrico Bambino Gesù; Rome Italy

12. University of Siena; Siena Italy

13. Università degli Studi di Trieste; Trieste Italy

14. Università di Napoli Federico II; Naples Italy

15. University Hospital La Fe; Valencia Spain

16. Women's and Children's Hospital, University of Adelaide; North Adelaide South Australia Australia

17. Ospedale Santa Chiara, Università di Pisa; Pisa Italy

18. Università Cattolica Sacro Cuore; Rome Italy

19. Hospital de Pediatria Juan P. Garrahan; Buenos Aires Argentina

20. University Childrens Hospital Zurich; Zurich Switzerland

21. Istituto Giannina Gaslini and Università degli Studi di Genova; Genoa Italy

Publisher

Wiley

Subject

Immunology,Rheumatology,Immunology and Allergy

Reference26 articles.

1. Nosologic aspects of systemic forms of very-early-onset juvenile arthritis: apropos of 17 cases;Prieur;Sem Hop,1984

2. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome;Meer;Lancet,1984

3. Mevalonic aciduria: an inborn error of cholesterol biosynthesis?;Berger;Clin Chim Acta,1985

4. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients;Drenth;Medicine (Baltimore),1994

5. Mevalonate kinase deficiency: evidence for a phenotypic continuum;Simon;Neurology,2004

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