Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients-Reference-Cited by-同舟云学术

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

Published:2012-10-03 Issue:5 Volume:36 Page:795-803
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Baruteau Julien,Sachs Philippe,Broué Pierre,Brivet Michèle,Abdoul Hendy,Vianey-Saban Christine,Ogier de Baulny Hélène

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-012-9542-6.pdf

Reference33 articles.

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2. Boles RG, Buck EA, Blitzer MG et al (1998) Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. J Pediatr 132:924–933

3. Bonnet D, Martin D, De Lonlay P et al (1999) Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100:2248–2253

4. Brivet M, Slama A, Saudubray JM et al (1995) Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes. Ann Clin Biochem 32:154–159

5. Clayton PT (2003) Diagnosis of inherited disorders of liver metabolism. J Inherit Metab Dis 26:135–146

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