Results 181 to 190 of about 13,572 (204)

[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

1997
Dietmar Schomburg, Dörte Stephan
openaire   +1 more source

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 Map position 12q24

Chromosome Research, 1997
K M, Gibson, G F, Hoffmann, R D, Tanaka, R W, Bishop, K L, Chambliss   +4 more
openaire   +2 more sources

Biochemical and genetic aspects of mevalonate kinase and its deficiency

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2000
Sander M Houten, Ronald J A Wanders, Hans R Waterham   +2 more
exaly  

Mevalonate kinase

2007
openaire   +1 more source

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

Human Mutation, 2006
Janet Koster, Hans R Waterham
exaly  

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

Modern Rheumatology, 2019
Ryuta Nishikomori, Hidemasa Sakai, Nami Okamoto   +2 more
exaly  

Overexpression, Purification, and Characterization of the Thermostable Mevalonate Kinase from Methanococcus jannaschii

Protein Expression and Purification, 1999
George N Bennett
exaly  

An improved purification procedure, an alternative assay and activation of mevalonate kinase by ATP

BBA - Proteins and Proteomics, 1983
W J O'Sullivan
exaly