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Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
Gitiaux C, Roze E, Kinugawa K, Flamand-Rouvière C, Boddaert N, Apartis E, Valayannopoulos V, Touati G, Motte J, Devos D, Mention K, Dobbelaere D, Rodriguez D, Roubertie A, Chabrol B, Feillet F, Vidailhet M, Bahi-Buisson N. Gitiaux C, et al. Among authors: dobbelaere d. Mov Disord. 2008 Dec 15;23(16):2392-7. doi: 10.1002/mds.22313. Mov Disord. 2008. PMID: 18823014
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier de Baulny H; French-Belgian study group for HT-1. Schiff M, et al. J Inherit Metab Dis. 2012 Sep;35(5):823-9. doi: 10.1007/s10545-011-9429-y. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167277
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.
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.
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ. Staufner C, et al. Among authors: dobbelaere d. J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7. J Inherit Metab Dis. 2016. PMID: 26642971
195 results