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Isoprenoid biosynthesis and mevalonate kinase deficiency
, 2011 Mevalonaat Kinase Deficiëntie (MKD) is een aangeboren ziekte geassocieerd met heftige koortsaanvallen die drie tot vier dagen aanhouden en gepaard gaan met koude rillingen, gewrichtsklachten, huiduitslag, hoofdpijn, duizeligheid, buikpijn, braken en diarree.
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Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. [PDF]
Ann Allergy Asthma Immunol, 2018 Dunn K +5 more
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Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis. [PDF]
JAAD Case Rep, 2018 Glinos GD +5 more
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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency. [PDF]
Ann Rheum Dis, 2018 Carapito R +17 more
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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
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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
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Mevalonate kinase deficiency nomenclature
Rheumatology International, 2013In 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. +2 more
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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 (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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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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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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Perinatal Onset Mevalonate Kinase Deficiency
Pediatric and Developmental Pathology, 2011Defects 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 +5 more
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