Inborn errors of ketogenesis and ketone body utilization
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9324-6
Reference40 articles.
1. Aledo R, Zschocke J, Pie J et al (2001) Genetic basis of mitochondrial HMG-CoA synthase deficiency. Hum Genet 109:19–23
2. Aledo R, Mir C, Dalton RN, Turner C, Pié J, Hegardt FG, Casals N, Champion MP (2006) Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency. J Inherit Metab Dis 29:207–211
3. Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A (2004) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol 56:727–730
4. Chalmers RA, Roe CR, Stacey TE, Hoppel CL (1984) Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatr Res 18:1325–1328
5. Dasouki M, Buchanan D, Mercer N, Gibson KM, Thoene J (1987) 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction. J Inherit Metab Dis 10:142–146
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