.png)
Research on MKD
Defective protein prenylation is a
diagnostic biomarker of mevalonate kinase deficiency (2017)
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency (2019)
Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review (2021).
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome (2006)
Mevalonate kinase deficiency: current perspectives (2016)
IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.” (2022)
“Control of the innate immune response by the mevalonate pathway.” (2016)
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry (2017)
Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever (2016)
“Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.” (2003)
MEVALONATE KINASE DEFICIENCY ASSOCIATED WITH RECURRENT LIVER DYSFUNCTION, MACROPHAGE ACTIVATION SYNDROME AND PERFORIN GENE POLYMORPHISM
Schulert GS, Bove K, McMasters R, Campbell K, Leslie N, Grom AA. 11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism. Arthritis Care Res (Hoboken). 2015 Aug;67(8):1173-9. doi: 10.1002/acr.22527. PMID: 25469482; PMCID: PMC4452461.