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Page 1
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Toquet S, Spodenkiewicz M, Douillard C, Maillot F, Arnoux JB, Damaj L, Odent S, Moreau C, Redonnet-Vernhet I, Mesli S, Servais A, Noel E, Charriere S, Rigalleau V, Lavigne C, Kaphan E, Roubertie A, Besson G, Bigot A, Servettaz A, Mochel F, Garnotel R. Toquet S, et al. Among authors: garnotel r. J Inherit Metab Dis. 2021 Sep;44(5):1199-1214. doi: 10.1002/jimd.12403. Epub 2021 Jun 7. J Inherit Metab Dis. 2021. PMID: 34014557
[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: garnotel r. 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.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T. Sabourdy F, et al. Among authors: garnotel r. Orphanet J Rare Dis. 2015 Mar 15;10:31. doi: 10.1186/s13023-015-0244-7. Orphanet J Rare Dis. 2015. PMID: 25885655 Free PMC article.
[Mass spectrometry and neonatal screening].
Garnotel R. Garnotel R. Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):107-11. doi: 10.1684/abc.2014.1021. Ann Biol Clin (Paris). 2015. PMID: 25582727 Free article. Review. French.
[Mass spectrometry and inherited metabolic diseases diagnosis].
Briand G, Lemaire-Ewing S, Parente F, Garnotel R. Briand G, et al. Among authors: garnotel r. Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):93-106. doi: 10.1684/abc.2014.1022. Ann Biol Clin (Paris). 2015. PMID: 25582726 Free article. Review. French.
[Recommendations for urinary organic acids analysis].
Van Noolen L, Acquaviva-Bourdain C, Dessein AF, Minet-Quinard R, Nowoczyn M, Garnotel R, Corne C. Van Noolen L, et al. Among authors: garnotel r. Ann Biol Clin (Paris). 2020 Oct 1;78(5):547-554. doi: 10.1684/abc.2020.1583. Ann Biol Clin (Paris). 2020. PMID: 33026349 Free article. French.
[Recommendations for aminoacids chromatography analysis].
Veauville A, Acquaviva-Bourdain C, Nowoczyn M, Read MH, Corne C, Dessein AF, Van Noolen L, Garnotel R, Minet-Quinard R. Veauville A, et al. Among authors: garnotel r. Ann Biol Clin (Paris). 2020 Oct 1;78(5):555-564. doi: 10.1684/abc.2020.1585. Ann Biol Clin (Paris). 2020. PMID: 33026350 Free article. French.
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