Results 151 to 160 of about 22,445 (200)

Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis. [PDF]

JAAD Case Rep, 2018
Glinos GD, Pastar I, Giubellino A, Tomic-Canic M, Miteva M, Stone RC.   +5 more
europepmc   +1 more source

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency. [PDF]

Ann Rheum Dis, 2018
Carapito R, Carapito C, Morlon A, Paul N, Vaca Jacome AS, Alsaleh G, Rolli V, Tahar O, Aouadi I, Rompais M, Delalande F, Pichot A, Georgel P, Messer L, Sibilia J, Cianferani S, Van Dorsselaer A, Bahram S.   +17 more
europepmc   +1 more source

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D [PDF]

, 2019
Bengoechea, Rocio, Chou, Tsui-Fen, Findlay, Andrew R., Pittman, Sara K., True, Heather L., Weihl, Conrad C.   +5 more
core   +1 more source

Mévalonate dans la cellule végétale (Le) [PDF]

Holef, Caroline
core  

IL-1β and mevalonate kinase deficiency

, 2008
openaire   +1 more source

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Mevalonate Kinase Deficiency and Autoinflammation

New England Journal of Medicine, 2007
To the Editor: The Perspective article about mevalonate kinase deficiency and autoinflammatory disorders by Haas and Hoffmann (June 28 issue)1 accompanies the Brief Report by Neven et al.2 The Perspective describes the disease spectrum of human mevalonate kinase deficiency, which includes unexplained periodic episodes of fever and inflammation, and ...
Elizabeth J. Hager, K. Michael Gibson
openaire   +3 more sources

Mevalonate kinase deficiency, a metabolic autoinflammatory disease

Clinical Immunology, 2013
Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical presentation and treatment. Mutations in both copies of the MVK-gene lead to a block in the mevalonate pathway. Interleukin-1beta mediates the inflammatory phenotype.
Robert, van der Burgh, Nienke M, Ter Haar, Marianne L, Boes, Joost, Frenkel   +3 more
openaire   +4 more sources

A mevalonate kinase assay

Analytical Biochemistry, 1970
Abstract A suitable assay has been developed for accurate measurements of mevalonate kinase in a crude enzyme preparation. The assay is particularly useful where comparative, tissue-specific, or developmental studies are to be made on mevalonate kinase.
T R, Green, D J, Baisted
openaire   +2 more sources

Mevalonate kinase deficiency nomenclature

Rheumatology International, 2013
In the letter of Celsi et al. [1], the authors suggest dropping the names of hyper-IgD syndrome (HIDS) and mevalonate kinase deficiency (MKD) for this hereditary syndrome. They base their conclusion upon the fact that there is no correlation between serum IgD concentration and disease severity, that not all HIDS patients show elevated IgD, and that ...
Stoffels, M., Meer, J.W.M. van der, Simon, A.   +2 more
openaire   +3 more sources

Mevalonate Kinase Deficiency

2016
Mevalonate kinase deficiency (MKD) is an autosomal recessive inborn error of isoprenoid biosynthesis, a pathway yielding sterols and nonsterol isoprenoids.In patients, the enzyme activity of mevalonate kinase is severely reduced due to mutations in the encoding gene, MVK.
Frenkel, Joost, Waterham, Hans R.
openaire   +3 more sources