Associated Papers
Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
Li L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
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 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
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Response to Li and Zhang: infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis.
Touitou I et al.
Journal of Dermatological Science, 2014
Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis.
Li C et al.
Journal of Dermatological Science, 2014
Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis.
Dai J et al.
Journal of Dermatological Science, 2013
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM et al.
Ophthalmology, 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
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome.
van der Hilst JC et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Simon A et al.
Neurology, 2004
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
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Kellner U et al.
Ophthalmic Genetics, 0
Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.
Qian W et al.
Indian Journal of Dermatology, 0