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Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J. Joncquel-Chevalier Curt M, et al. Among authors: dobbelaere d. Biochimie. 2015 Dec;119:146-65. doi: 10.1016/j.biochi.2015.10.022. Epub 2015 Nov 2. Biochimie. 2015. PMID: 26542286 Review.
A new case of 2-methylacetoacetyl-CoA thiolase deficiency?
Renom G, Fontaine M, Rolland MO, Duprey J, Degand PM, Dobbelaere D. Renom G, et al. Among authors: dobbelaere d. J Inherit Metab Dis. 2000 Nov;23(7):751-3. doi: 10.1023/a:1005655619236. J Inherit Metab Dis. 2000. PMID: 11117436 No abstract available.
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: dobbelaere d. 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.
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].
Feillet F, Ogier H, Cheillan D, Aquaviva C, Labarthe F, Baruteau J, Chabrol B, de Lonlay P, Valayanopoulos V, Garnotel R, Dobbelaere D, Briand G, Jeannesson E, Vassault A, Vianey-Saban C; SFEIM (Société française pour l’étude des erreurs innées du métabolisme). Feillet F, et al. Among authors: dobbelaere d. Arch Pediatr. 2012 Feb;19(2):184-93. doi: 10.1016/j.arcped.2011.10.025. Epub 2012 Jan 12. Arch Pediatr. 2012. PMID: 22244319 French.
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J. Cheillan D, et al. Among authors: dobbelaere d. Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96. Orphanet J Rare Dis. 2012. PMID: 23234264 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: dobbelaere d. JIMD Rep. 2012;6:7-14. doi: 10.1007/8904_2011_94. Epub 2012 Jan 31. JIMD Rep. 2012. PMID: 23430932 Free PMC article.
Creatine and guanidinoacetate reference values in a French population.
Joncquel-Chevalier Curt M, Cheillan D, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Des Portes V, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Tardieu M, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Porchet N, Vianey-Saban C, Vamecq J. Joncquel-Chevalier Curt M, et al. Among authors: dobbelaere d. Mol Genet Metab. 2013 Nov;110(3):263-7. doi: 10.1016/j.ymgme.2013.09.005. Epub 2013 Sep 16. Mol Genet Metab. 2013. PMID: 24090707
195 results