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Page 1
Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study.
Viola S, Benlian P, Morali A, Dobbelaere D, Lacaille F, Rieu D, Ginies JL, Maurage C, Meyer M, Lachaux A, Larchet M, Lenearts C, Goulet O, Sarles J, Mouterde O, Girardet JP; French-Speaking Group for Pediatric Hepatogastroenterology and Nutrition. Viola S, et al. Among authors: dobbelaere d. J Pediatr Gastroenterol Nutr. 2001 Aug;33(2):122-6. doi: 10.1097/00005176-200108000-00005. J Pediatr Gastroenterol Nutr. 2001. PMID: 11568510
NTBC treatment in tyrosinaemia type I: long-term outcome in French patients.
Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, de Baulny HO, Touati G. Masurel-Paulet A, et al. Among authors: dobbelaere d. J Inherit Metab Dis. 2008 Feb;31(1):81-7. doi: 10.1007/s10545-008-0793-1. Epub 2008 Jan 25. J Inherit Metab Dis. 2008. PMID: 18214711
Long term outcome of MPI-CDG patients on D-mannose therapy.
Girard M, Douillard C, Debray D, Lacaille F, Schiff M, Vuillaumier-Barrot S, Dupré T, Fabre M, Damaj L, Kuster A, Torre S, Mention K, McLin V, Dobbelaere D, Borgel D, Bauchard E, Seta N, Bruneel A, De Lonlay P. Girard M, et al. Among authors: dobbelaere d. J Inherit Metab Dis. 2020 Nov;43(6):1360-1369. doi: 10.1002/jimd.12289. Epub 2020 Aug 9. J Inherit Metab Dis. 2020. PMID: 33098580
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
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M. Boutron A, et al. Among authors: dobbelaere d. Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19. Mol Genet Metab. 2011. PMID: 21549624
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.
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
199 results