Associated Papers
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Bader-Meunier B et al.
Inflammatory Bowel Diseases, 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 Deficiency: Diagnostic and Management Challenges.
Choudhary PK et al.
Indian Journal of Pediatrics, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Suri D et al.
Frontiers in Immunology, 2021
Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.
Correa ARE et al.
Indian Pediatrics, 2020
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
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
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
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Amyloidosis in a child with hyperimmunoglobulinemia D syndrome.
Yel S et al.
Iranian Journal of Kidney Diseases, 2013
Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey).
Tas DA et al.
Clinical Rheumatology, 2012
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Hyper-IgD syndrome with novel mutation in a Japanese girl.
Naruto T et al.
Modern Rheumatology, 2009
Allogeneic bone marrow transplantation in mevalonic aciduria.
Neven B et al.
The New England Journal of Medicine, 2007
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
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