Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome
Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria are autosomal
recessive disorders characterized by recurrent episodes of fever and generalized …
recessive disorders characterized by recurrent episodes of fever and generalized …
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
L Cuisset, JPH Drenth, A Simon, MF Vincent… - European Journal of …, 2001 - nature.com
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) is an autosomal
recessive inflammatory disorder characterised by recurrent episode of fever associated with …
recessive inflammatory disorder characterised by recurrent episode of fever associated with …
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic …
Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome
(HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of …
(HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of …
Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency
SHL Mandey, MS Schneiders, J Koster… - Human …, 2006 - Wiley Online Library
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder
caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase …
caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase …
Carrier frequency of the V377I (1129G> A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands
SM Houten, CS van Woerden, FA Wijburg… - European journal of …, 2003 - nature.com
Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria (MA) are two
autosomal recessive disorders that both are caused by a deficient activity of the enzyme …
autosomal recessive disorders that both are caused by a deficient activity of the enzyme …
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin?
M Tsimaratos, I Kone-Paut, P Divry… - Journal of inherited …, 2001 - search.proquest.com
Mevalonic aciduria (MVA; McKusick 251170) is and autosomal recessive disorder
characterized by sever failure to thrive, developmental delay, anaemia …
characterized by sever failure to thrive, developmental delay, anaemia …
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever
Autosomal recessive autoinflammatory disorder caused by mutations of the mevalonate
kinase gene (MVK), leading to mild, incomplete MK enzyme deficiency (MKD), has been …
kinase gene (MVK), leading to mild, incomplete MK enzyme deficiency (MKD), has been …
[PDF][PDF] Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation
S Normand, B Massonnet, A Delwail… - European cytokine …, 2009 - researchgate.net
The mevalonate kinase deficiency (MKD), including hyperimmunoglobulinemia D periodic
fever syndrome (HIDS) and the more severe mevalonic aciduria are rare, autosomal …
fever syndrome (HIDS) and the more severe mevalonic aciduria are rare, autosomal …
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
SM Houten, W Kuis, M Duran, TJ De Koning… - Nature …, 1999 - nature.com
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an
autosomal recessive disorder characterized by recurrent episodes of fever associated with …
autosomal recessive disorder characterized by recurrent episodes of fever associated with …
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D
Objectives. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was
found recently to be caused by a deficiency of mevalonate kinase (MK). The aim of this study …
found recently to be caused by a deficiency of mevalonate kinase (MK). The aim of this study …