Results 171 to 180 of about 13,572 (204)
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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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Mevalonate Kinase Deficiency and Autoinflammatory Disorders
New England Journal of Medicine, 2007Drs. Dorothea Haas and Georg Hoffmann write that mevalonic aciduria and hyperimmunoglobulinemia D syndrome are rare disorders, but they represent a unique link among inborn errors of metabolism, side effects of statin therapy, and inflammatory and rheumatic disorders.
Dorothea, Haas, Georg F, Hoffmann
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Retinitis pigmentosa in mevalonate kinase deficiency
Journal of Inherited Metabolic Disease, 2005SummaryRetinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician.
B, Balgobind +2 more
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Mevalonate Kinase Deficiency: Disclosing the Role of Mevalonate Pathway Modulation in Inflammation
Current Pharmaceutical Design, 2012Inflammation is a highly regulated process involved both in the response to pathogens as well as in tissue homeostasis. In recent years, a complex network of proteins in charge of inflammation control has been revealed by the study of hereditary periodic fever syndromes.
A. Marcuzzi +5 more
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Uveitis, glaucoma, and cataract with mevalonate kinase deficiency
Journal of American Association for Pediatric Ophthalmology and Strabismus, 2022We report 7 years of follow-up data on ocular findings in a 2-month-old boy who presented with early-onset bilateral granulomatous panuveitis with subsequent development of secondary glaucoma and total cataract, along with multisystem involvement. He was diagnosed with mevalonate kinase deficiency (MKD), with a homozygous missense variant in exon-6 of ...
Nidhi, Agarwal, Mihir, Kothari
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Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria
Molecular Genetics and Metabolism, 2012Mevalonate 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 +2 more
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1985
Publisher Summary This chapter discusses mevalonate kinase. Mevalonate kinase has been found in a wide variety of sources. Some of these are yeast autolysate, pig and rabbit liver extracts, superovulated rat ovaries, pumpkin seedlings, rubber latex, larva of the flesh fly, green leaves and etiolated cotyledons of French beans, Pinus pinaster ...
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Publisher Summary This chapter discusses mevalonate kinase. Mevalonate kinase has been found in a wide variety of sources. Some of these are yeast autolysate, pig and rabbit liver extracts, superovulated rat ovaries, pumpkin seedlings, rubber latex, larva of the flesh fly, green leaves and etiolated cotyledons of French beans, Pinus pinaster ...
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Mevalonate Kinase Deficiency and Autoinflammation
New England Journal of Medicine, 2007To 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].
La Revue du praticienMEVALONATE KINASE DEFICIENCY. Mevalonate kinase deficiency is a rare, autosomal recessive, auto- inflammatory disease, linked to mutations in the gene MVK, resulting in the activation of pyrin inflammasome and hypersecretion of interleukin-1β (IL-1β).
R H, Weng, J, Yang, Y H, Wang
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Mevalonic kinase in rabbit liver
Biochimica et Biophysica Acta, 1961Abstract Mevalonic kinase has been purified 100-fold from an acetone powder of rabbit liver by ammonium sulfate fractionation, protamine sulfate precipitation, and DEAE-cellulose chromatography. This enzyme catalyses the formation of P-MVA and ADP from the biologically active isomer of MVA and ATP.
Kehl Markley, Elizabeth Smallman
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