A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis
- 1 June 1988
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 11 (S2) , 233-236
- https://doi.org/10.1007/bf01804244
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
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- Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesisJournal of Inherited Metabolic Disease, 1987
- 62 MEVALONIC ACIDURIA. MEMBRANE COMPOSITION AND FLUIDITY IN AN INBORN ERROR OF CHOLESTEROL SYNTHESISPediatric Research, 1986
- Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene BiosynthesisNew England Journal of Medicine, 1986
- Mevalonic aciduria: an inborn error of cholesterol biosynthesis?Clinica Chimica Acta; International Journal of Clinical Chemistry, 1985
- Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acidsClinica Chimica Acta; International Journal of Clinical Chemistry, 1985