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195 results

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Page 1
Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy.
Outteryck O, de Sèze J, Stojkovic T, Cuisset JM, Dobbelaere D, Delalande S, Lacour A, Cabaret M, Lepoutre AC, Deramecourt V, Zéphir H, Fowler B, Vermersch P. Outteryck O, et al. Among authors: dobbelaere d. Neurology. 2012 Jul 24;79(4):386-8. doi: 10.1212/WNL.0b013e318260451b. Epub 2012 Jul 11. Neurology. 2012. PMID: 22786600 No abstract available.
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT. Héron B, et al. Among authors: dobbelaere d. Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36. Orphanet J Rare Dis. 2012. PMID: 22676771 Free PMC article. Clinical Trial.
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
Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition.
Béghin L, Coopman S, Schiff M, Vamecq J, Mention-Mulliez K, Hankard R, Cuisset JM, Ogier H, Gottrand F, Dobbelaere D. Béghin L, et al. Among authors: dobbelaere d. Clin Nutr. 2016 Dec;35(6):1414-1422. doi: 10.1016/j.clnu.2016.03.015. Epub 2016 Apr 8. Clin Nutr. 2016. PMID: 27173380 Free article. Clinical Trial.
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
Cuisset JM, Sukno S, Trauffler A, Latour P, Dobbelaere D, Michaud L, Vallée L. Cuisset JM, et al. Among authors: dobbelaere d. J Med Case Rep. 2016 Sep 6;10(1):241. doi: 10.1186/s13256-016-1038-9. J Med Case Rep. 2016. PMID: 27599728 Free PMC article.
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J. Dessein AF, et al. Among authors: dobbelaere d. Clin Chim Acta. 2017 Aug;471:101-106. doi: 10.1016/j.cca.2017.05.026. Epub 2017 May 19. Clin Chim Acta. 2017. PMID: 28532786
Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.
Grzych G, Deheul S, Gernez E, Davion JB, Dobbelaere D, Carton L, Kim I, Guichard JC, Girot M, Humbert L, Bennis A, Joncquel M, Chieux V, Joly A, Nasserdine P, Trillot N, Douillard C, Pigny P, Tard C. Grzych G, et al. Among authors: dobbelaere d. J Neurol. 2023 Apr;270(4):2237-2245. doi: 10.1007/s00415-023-11570-z. Epub 2023 Jan 24. J Neurol. 2023. PMID: 36690804
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Among authors: dobbelaere d. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
Hypoglycaemia related to inherited metabolic diseases in adults.
Douillard C, Mention K, Dobbelaere D, Wemeau JL, Saudubray JM, Vantyghem MC. Douillard C, et al. Among authors: dobbelaere d. Orphanet J Rare Dis. 2012 May 15;7:26. doi: 10.1186/1750-1172-7-26. Orphanet J Rare Dis. 2012. PMID: 22587661 Free PMC article. Review.
195 results