Results 171 to 180 of about 9,132 (188)

[Mevalonate kinase deficiency in 2016].

La Revue de medecine interne, 2018
Mevalonate 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, S, Georgin-Lavialle, G, Sarrabay, I, Touitou, I, Koné-Paut   +4 more
openaire   +1 more source

Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum

Pediatrics, 2003
Objective. 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, Mayatepek, Ertan, Krastel, Hermann, Haas, Dorothea, Zundel, Dorothee, Waterham, Hans R., Wanders, Ronald J. A., Gibson, K. Michael, Hoffmann, Georg F.   +8 more
openaire   +3 more sources

Mevalonate Kinase Deficiency: Diagnostic and Management Challenges

Indian Journal of Pediatrics, 2021
Puneet Kumar Choudhary, Vivek Parihar, Jagatshreya Satapathy, Narendra Kumar Bagri   +3 more
openaire   +2 more sources

Mevalonate kinase deficiency and Dutch type periodic fever.

Clinical and experimental rheumatology, 2000
Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The Netherlands. From infancy the patients suffer fever attacks that recur every 2-8 weeks, often precipitated by immunizations, infections or emotional stress. Fever lasts 2-7 days and can be accompanied
Frenkel, J., Houten, S. M., Waterham, H. R., Wanders, R. J., Rijkers, G. T., Kimpen, J. L., Duran, R., Poll-The, B. T., Kuis, W.   +8 more
openaire   +3 more sources

Mevalonate Kinase Deficiency (MKD)

2018
Jerold Jeyaratnam, Joost Frenkel
openaire   +1 more source

Metabolic Induction of Trained Immunity through the Mevalonate Pathway

Cell, 2018
Siroon Bekkering, Boris Novakovic, Ioannis Kourtzelis   +2 more
exaly  

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

Human Mutation, 2006
Hans R Waterham
exaly  

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics

Modern Rheumatology, 2019
Takayuki Tanaka, Ryuta Nishikomori, Akira Morimoto   +2 more
exaly  

A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency

Joint Bone Spine, 2015
Isabelle Koné-paut, Maryam Piram
exaly  

Biochemical and genetic aspects of mevalonate kinase and its deficiency

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2000
Sander M Houten, Hans R Waterham
exaly