Associated Papers
Mevalonate kinase deficiency: Neuropathologic findings in an autopsy brain.
Lokken A et al.
Journal of Neuropathology and Experimental Neurology, 2025
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
A case report of Hyper-IgD syndrome in a 5-year-old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A).
Tabibi P et al.
Clinical Case Reports, 2024
Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review.
Gezgin Yıldırım D et al.
Clinical Rheumatology, 2023
The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency.
Jeyaratnam J et al.
Pediatric Rheumatology Online Journal, 2022
Proteomic Signatures of Monocytes in Hereditary Recurrent Fevers.
Penco F et al.
Frontiers in Immunology, 2022
Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.
Omoyinmi E et al.
Pediatric Rheumatology Online Journal, 2021
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
Rheumatological manifestations in inborn errors of immunity.
Köstel Bal S et al.
Pediatric Research, 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
Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene.
Laccetta G et al.
Frontiers in Pediatrics, 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
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M et al.
Annals of the Rheumatic Diseases, 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
11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.
Schulert GS et al.
Arthritis Care & Research, 2015
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.
Iolascon A et al.
Haematologica, 2012
Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria.
Chaudhury S et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2012
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.
Samkari A et al.
Pediatrics, 2010
Differentiating PFAPA syndrome from monogenic periodic fevers.
Gattorno M et al.
Pediatrics, 2009
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
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
Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation.
Houten SM et al.
Cellular and Molecular Life Sciences : Cmls, 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
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