Results 131 to 140 of about 4,712 (147)
Some of the next articles are maybe not open access.
Biochemical and genetic aspects of mevalonate kinase and its deficiency
Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2000Mevalonate kinase (MK) is an essential enzyme in the mevalonate pathway which produces numerous cellular isoprenoids. The enzyme has been characterized both at the biochemical and the molecular level in a variety of organisms. Despite the fact that mevalonate kinase is not the rate-limiting enzyme in isoprenoid biosynthesis, its activity is subject to ...
Hans R Waterham +2 more
exaly +3 more sources
[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
openaire +3 more sources
Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum
Pediatrics, 2003Objective. Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash.
Prietsch, Viola +8 more
openaire +3 more sources
[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
openaire +1 more source
Mevalonate Kinase Deficiency: Diagnostic and Management Challenges
Indian Journal of Pediatrics, 2021Puneet Kumar Choudhary +3 more
openaire +2 more sources
A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency
Joint Bone Spine, 2015Isabelle Koné-Paut, Maryam Piram
exaly
Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency†
Human Mutation, 2006Hans R Waterham, Janet Koster
exaly
Monocyte Production of IFN-γ Is Interleukin-12 Dependent in a Model of Mevalonate Kinase Deficiency
Journal of Interferon and Cytokine Research, 2019Eric T Vogt
exaly