Results 81 to 90 of about 443 (126)

Living with a systemic autoinflammatory disease: burden of disease and effects on quality of life-an international patient survey. [PDF]

EULAR Rheumatol Open
Ashoor M, Marsden A, Ashari KA, Tennermann N, Lapidus S, Tucker L, Tousseau J, Angevare S, Durrant K, Dedeoglu F.   +9 more
europepmc   +1 more source

Blinded Minds: The Role of Cataracts in Cognitive Decline and Dementia. [PDF]

Cureus
Estil-Las AA, Grace M, Arsene C, Gonzalez La Rosa J.   +3 more
europepmc   +1 more source

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

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.
Stefan Koelker, Christian Thiel, Silvia Martini   +2 more
exaly   +2 more sources

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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 (
Peter Smit
exaly   +5 more sources

Mevalonic aciduria

Journal of Inherited Metabolic Disease, 1991
Viktor Kožich, Jiri Zeman, K Michael Gibson   +2 more
exaly   +3 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, Laurence CUISSET, Marianne Debre   +2 more
exaly   +3 more sources

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 ...
R J Cenedella, Richard J Cenedella
exaly   +3 more sources

Mevalonic Aciduria Cured by Bone Marrow Transplantation

New England Journal of Medicine, 2007
To the Editor: Neven et al. (June 28 issue)1 discuss the use of bone marrow transplantation in the treatment of severe mevalonic aciduria.
Mario Abinun, Peter D Arkwright, Andrew J Cant   +2 more
exaly   +2 more sources

Abnormal prenatal ultrasound findings in mevalonic aciduria

Prenatal Diagnosis, 2008
Ulrich Gembruch, Georg Friedrich Hoffmann   +1 more
exaly   +2 more sources

Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

Pediatrics, 1993
Objective. Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of mevalonic aciduria, the authors assembled their experience with 11 patients ...
Friedrich Trefz, Michael Leichsenring, Dietz Rating   +2 more
exaly   +4 more sources