Associated Papers
Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.
Pugliese A et al.
Orphanet Journal of Rare Diseases, 2026
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome.
Politiek FA et al.
Journal of Inherited Metabolic Disease, 2024
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
Lengvári L et al.
Frontiers in Immunology, 2024
Isolated neurological presentations of mevalonate kinase deficiency.
Hoytema van Konijnenburg EMM et al.
Jimd Reports, 2023
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A et al.
Clinical Genetics, 2022
Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.
Touitou I
Genes & Diseases, 2022
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
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.
Politiek FA et al.
Frontiers in Immunology, 2021
Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
Fransson S et al.
Scientific Reports, 2020
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Van Gorp H et al.
Annals of the Rheumatic Diseases, 2020
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
Mezzavilla M et al.
Rheumatology International, 2018
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
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).
Jeyaratnam J et al.
Jimd Reports, 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
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM et al.
Ophthalmology, 2013
On-demand anakinra treatment is effective in mevalonate kinase deficiency.
Bodar EJ et al.
Annals of the Rheumatic Diseases, 2011
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Diagnosis and management of autoinflammatory diseases in childhood.
Gattorno M et al.
Journal of Clinical Immunology, 2008
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Retinitis pigmentosa in mevalonate kinase deficiency.
Balgobind B et al.
Journal of Inherited Metabolic Disease, 2005
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Simon A et al.
Neurology, 2004
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
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Prietsch V et al.
Pediatrics, 2003
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.
Houten SM et al.
European Journal of Human Genetics : Ejhg, 2003
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.
Houten SM et al.
Human Molecular Genetics, 2002
The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease.
Fu Z et al.
The Journal of Biological Chemistry, 2002
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 and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Houten SM et al.
Human Molecular Genetics, 1999
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
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM et al.
Nature Genetics, 1999
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
Hinson DD et al.
The Journal of Biological Chemistry, 1997
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Kellner U et al.
Ophthalmic Genetics, 0