Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.
Pugliese A et al.
Orphanet Journal of Rare Diseases, 2026
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
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 gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.
Yıldız F et al.
Archives of Rheumatology, 2023
Isolated neurological presentations of mevalonate kinase deficiency.
Hoytema van Konijnenburg EMM et al.
Jimd Reports, 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
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
A rare cause of AA amyloidosis and end-stage kidney failure: Answers.
Taşdemir M et al.
Pediatric Nephrology (berlin, Germany), 2019
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
Rowczenio DM et al.
Presse Medicale (paris, France : 1983), 2019
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
Munoz MA et al.
Frontiers in Immunology, 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 clinical update on inflammasomopathies.
Sönmez HE et al.
International Immunology, 2017
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
Autoinflammatory Diseases with Periodic Fevers.
Sag E et al.
Current Rheumatology Reports, 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
Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases.
Jurczyluk J et al.
Immunology and Cell Biology, 2016
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
TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome.
Stoffels M et al.
Rheumatology (oxford, England), 2015
Periodic fever and hyperimmunoglobulin D syndrome in a boy with pediatric autoimmune neuropsychiatric disorders associated with group A β-Hemolytic streptococcus.
Ray PC et al.
Journal of Child and Adolescent Psychopharmacology, 2013
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers.
Simon A et al.
Molecular Genetics and Metabolism, 2013
Evolutionary hypothesis of the Mevalonate Kinase Deficiency.
Vuch J et al.
Medical Hypotheses, 2013
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S et al.
Developmental Disabilities Research Reviews, 2013
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Caso F et al.
International Journal of Rheumatology, 2013
Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey).
Tas DA et al.
Clinical Rheumatology, 2012
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
Tahara M et al.
Modern Rheumatology, 2011
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
Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.
Korppi M et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
[Hyperimmunoglobulinemia D and periodic fever syndrome].
Sakai H et al.
Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2011
Hyperimmunoglobulin D syndrome in childhood.
van der Hilst JC et al.
Current Rheumatology Reports, 2010
A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever.
Steichen O et al.
The Journal of Rheumatology, 2009
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
van der Hilst JCH et al.
Medicine, 2008
Diagnosis and management of autoinflammatory diseases in childhood.
Gattorno M et al.
Journal of Clinical Immunology, 2008
A Case of Hyper IgD and Periodic Fever Syndrome in Japan.
Kawashima H et al.
Clinical Medicine. Case Reports, 2008
Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease?
Siewert R et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2006
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
D'Osualdo A et al.
European Journal of Human Genetics : Ejhg, 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
Expression, purification, and characterization of His20 mutants of rat mevalonate kinase.
Chu X et al.
Protein Expression and Purification, 2003
Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation.
Houten SM et al.
Cellular and Molecular Life Sciences : Cmls, 2003