Results 151 to 160 of about 9,132 (188)

Pharmacologic management of renal involvement in monogenic autoinflammatory diseases. [PDF]

Eur J Med Res
Fayed A, Hegazy MT, Sota J, Gaggiano C, Ragab G.   +4 more
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Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress. [PDF]

Pediatr Rheumatol Online J
Schulert GS.
europepmc   +1 more source

IL-1β and mevalonate kinase deficiency

, 2008
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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
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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
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Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Molecular Genetics and Metabolism, 2012
Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis.
Chitra, Prasad, Marina I, Salvadori, C A, Rupar   +2 more
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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
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Perinatal Onset Mevalonate Kinase Deficiency

Pediatric and Developmental Pathology, 2011
Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which ...
Laurie A, Steiner, Richard A, Ehrenkranz, Steven M, Peterec, Robert D, Steiner, Miguel, Reyes-Múgica, Patrick G, Gallagher   +5 more
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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.
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Mevalonate Kinase Deficiency

2019
Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease caused by loss of function mutations in both alleles of MVK, the gene encoding the enzyme mevalonate kinase. Deficiency of this enzyme results in impaired isoprenoid biosynthesis. The inflammatory attacks in MKD are characterized by fever, lymphadenopathy, gastrointestinal symptoms ...
Joost Frenkel, Anna Simon
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