Associated Papers
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
Lengvári L et al.
Frontiers in Immunology, 2024
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H et al.
Journal of Inherited Metabolic Disease, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R et al.
Orphanet Journal of Rare Diseases, 2017
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Ter Haar NM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2016
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Browne C et al.
Annals of Human Genetics, 2015
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.
Lainka E et al.
Rheumatology International, 2012
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Differentiating PFAPA syndrome from monogenic periodic fevers.
Gattorno M et al.
Pediatrics, 2009
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Touitou I et al.
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2004
Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation.
Houten SM et al.
Cellular and Molecular Life Sciences : Cmls, 2003
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM et al.
European Journal of Human Genetics : Ejhg, 2001
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Cuisset L et al.
European Journal of Human Genetics : Ejhg, 2001
Biochemical and genetic aspects of mevalonate kinase and its deficiency.
Houten SM et al.
Biochimica Et Biophysica Acta, 2000
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
Hinson DD et al.
American Journal of Human Genetics, 1999