Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection
- 15 May 1991
- journal article
- Published by Elsevier in Clinica Chimica Acta; International Journal of Clinical Chemistry
- Vol. 198 (3), 209-227
- https://doi.org/10.1016/0009-8981(91)90355-g
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- Measurement of mevalonate in human plasma and urine by multiple selected ion monitoringJournal of Mass Spectrometry, 1989
- A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosisJournal of Inherited Metabolic Disease, 1988
- Mevalonic aciduria: Pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblastsJournal of Inherited Metabolic Disease, 1988
- Near normal levels of isoprenoid lipids in severe mevalonic aciduriaBiochemical and Biophysical Research Communications, 1988
- Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesisJournal of Inherited Metabolic Disease, 1987
- Quantitative role of different embryonic tissues in mevalonate metabolism by sterol and nonsterol pathways. Relationship with enzyme activities of cholesterogenesisBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1986
- Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene BiosynthesisNew England Journal of Medicine, 1986
- Mevalonate supplementation in pregnant rats suppresses the teratogenicity of mevinolinic acid, an inhibitor of 3‐hydroxy‐3‐methylglutaryl‐coenzyme a reductaseTeratology, 1983
- Isolation and identification of a mevalonolactone by-product formed during the assay for 3-hydroxy-3-methylglutaryl coenzyme a reductase activityBiochimica et Biophysica Acta (BBA) - General Subjects, 1976
- Blood concentration and turnover of circulating mevalonate in the ratLife Sciences, 1972