Fatty acid oxidation disorders: outcome and long-term prognosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-9001-1
Reference30 articles.
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2. Andresen BS, Dobrowolski SF, O’Reilly L et al (2001) Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68:1408–1418
3. den Boer ME, Wanders RJ, Morris AA et al (2002) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 109:99–104
4. den Boer ME, Dionisi-Vici C, Chakrapani A et al (2003) Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr 142:684–689
5. Derks TG, Reijngoud DJ, Waterham HR et al (2006) The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr 148:665–670
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