Results 101 to 110 of about 519 (143)
Sterile osteomyelitis: a cardinal sign of autoinflammation. [PDF]
ReumatologiaBorges T, Santos J, Silva S.
europepmc +1 more source
Probing cataractogenesis associated with mevalonic aciduria
Current Eye Research, 1998 Mevalonic aciduria in humans results from a genetic deficiency of mevalonate kinase and is characterized by very high plasma mevalonic acid levels, developmental malformations and cataracts. This study tested the possibility that the cataracts could result from direct toxicity of the accumulated mevalonate.Young rat lenses were cultured for up to 4 ...
Richard J Cenedella
exaly +4 more sources
Coenzyme Q10 in phenylketonuria and mevalonic aciduria
Mitochondrion, 2007 Mevalonic aciduria (MVA) and phenylketonuria (PKU) are inborn errors of metabolism caused by deficiencies in the enzymes mevalonate kinase and phenylalanine 4-hydroxylase, respectively. Despite numerous studies the factors responsible for the pathogenicity of these disorders remain to be fully characterised.
Iain P Hargreaves
exaly +4 more sources
Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria
New England Journal of Medicine, 2007 Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features. This autosomal recessive disease is caused by a mutation in the mevalonate kinase gene that severely reduces mevalonate kinase activity.
Pierre Quartier +2 more
exaly +4 more sources
Mevalonic aciduria: an inborn error of cholesterol biosynthesis?
Clinica Chimica Acta, 1985 The application of combined gas-liquid chromatography mass spectrometry in the analysis of physiological fluids from patients in whom a metabolic disorder is suspected has revealed many new inborn errors of metabolism, especially organic acidurias. Inborn errors have been identified in the conversion of cholesterol into steroid hormones and bile acids (
R Berger, G P A Smit
exaly +7 more sources
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria [PDF]
Journal of Inherited Metabolic Disease, 2021 Abstract Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized by increased urinary excretion of mevalonic acid. So far, 30 MVA patients have been reported, suffering from recurrent febrile crises and neurologic impairment.
Heiko Brennenstuhl +2 more
exaly +4 more sources
Journal of Inherited Metabolic Disease, 1988 Mevalonic aciduria is an inborn error in cholesterol biosynthesis, due to a deficiency of mevalonate kinase (EC 2.7.1.36), which has recently been discovered. So far two patients have been reported (Berger et al., 1985; Hoffmann et al., 1986).
J B C De Klerk, L Dorland, D Ketting
exaly +4 more sources
Journal of Inherited Metabolic Disease, 2009 SummaryThe content of coenzyme Q10 (CoQ10) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ10 depletion either by direct inhibition of the proximal pathway of CoQ10 synthesis (MVA) or ...
Haas, D. +8 more
openaire +3 more sources