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A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Dessein AF, Fontaine M, Andresen BS, Gregersen N, Brivet M, Rabier D, Napuri-Gouel S, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, Briand G, Millington DS, Vianey-Saban C, Wanders RJ, Vamecq J. Dessein AF, et al. Among authors: martin ponthieu a. Orphanet J Rare Dis. 2010 Oct 5;5:26. doi: 10.1186/1750-1172-5-26. Orphanet J Rare Dis. 2010. PMID: 20923556 Free PMC article.
A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.
Fontaine M, Dessein AF, Douillard C, Dobbelaere D, Brivet M, Boutron A, Zater M, Mention-Mulliez K, Martin-Ponthieu A, Vianey-Saban C, Briand G, Porchet N, Vamecq J. Fontaine M, et al. Among authors: martin ponthieu a. JIMD Rep. 2012;6:7-14. doi: 10.1007/8904_2011_94. Epub 2012 Jan 31. JIMD Rep. 2012. PMID: 23430932 Free PMC article.
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