Associated Papers
Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review.
Li Y et al.
Pediatric Rheumatology Online Journal, 2024
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 clinical update on inflammasomopathies.
Sönmez HE et al.
International Immunology, 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
26420133 (PubMed )
Supplement: supplement_1.zip › Supplementary_Table_S1.xlsx › Sheet1
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Autoinflammatory diseases: an update of clinical and genetic aspects.
Yao Q et al.
Rheumatology (oxford, England), 2008
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases.
Lachmann HJ et al.
Arthritis and Rheumatism, 2006
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