Results 111 to 120 of about 12,260 (143)
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[Mevalonate kinase deficiency].
Zhonghua er ke za zhi = Chinese journal of pediatricsMEVALONATE 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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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, a metabolic autoinflammatory disease
Clinical Immunology, 2013Mevalonate 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 +3 more
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Hyper-IgD syndrome or mevalonate kinase deficiency
Current Opinion in Rheumatology, 2011The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past 2
Stoffels, M., Simon, A.
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Journal of Inherited Metabolic Disease, 1988
Mevalonic aciduria represents the first documented inherited disorder of the pathway for the biosynthesis of cholesterol and non-sterol isoprenes in man (Hoffmann et al., 1986). Two patients have been described (Berger et al., 1985; Hoffmann et al., 1986), whose clinical presentations were very different.
G, Hoffmann +3 more
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Mevalonic aciduria represents the first documented inherited disorder of the pathway for the biosynthesis of cholesterol and non-sterol isoprenes in man (Hoffmann et al., 1986). Two patients have been described (Berger et al., 1985; Hoffmann et al., 1986), whose clinical presentations were very different.
G, Hoffmann +3 more
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[Mevalonate kinase deficiency in 2016].
La Revue de medecine interne, 2018Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum ...
C, Galeotti +4 more
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Targeting the mevalonate pathway suppresses ARID1A-inactivated cancers by promoting pyroptosis
Cancer Cell, 2023Rugang Zhang
exaly
Mevalonate kinase Map position 12q24
Chromosome Research, 1997K M, Gibson +4 more
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Mevalonate Kinase Deficiency: Diagnostic and Management Challenges
Indian Journal of Pediatrics, 2021Puneet Kumar Choudhary +3 more
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