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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 5
1996 1
1997 1
1999 1
2000 1
2001 1
2002 1
2003 2
2004 1
2005 2
2006 1
2007 3
2008 1
2009 1
2011 1
2012 1
2015 1
2016 2
2017 4
2018 2
2019 5
2020 3
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39 results
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Page 1
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, Pérard L, Kaminsky P, Pouget J, Rigal O, Vanhulle C, Eymard B, Vianey-Saban C, Laforêt P. Béhin A, et al. Among authors: Fouilhoux A. Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30. Rev Neurol (Paris). 2016. PMID: 27038534
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, de Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Guéant JL, Namour F. Jeannesson-Thivisol E, et al. Among authors: Fouilhoux A. Orphanet J Rare Dis. 2015 Dec 15;10:158. doi: 10.1186/s13023-015-0375-x. Orphanet J Rare Dis. 2015. PMID: 26666653 Free PMC article. Clinical Trial.
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D. Pettazzoni M, et al. Among authors: Fouilhoux A. PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017. PLoS One. 2017. PMID: 28749998 Free PMC article.
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW. Oerum S, et al. Among authors: Fouilhoux A. Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3294-3302. doi: 10.1016/j.bbadis.2017.09.002. Epub 2017 Sep 7. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28888424 Free article.
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire.
Noël E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagège A, Dupuis-Siméon F, Derrien Ansquer V, Germain DP, Lidove O. Noël E, et al. Among authors: Fouilhoux A. Orphanet J Rare Dis. 2019 Dec 4;14(1):284. doi: 10.1186/s13023-019-1254-7. Orphanet J Rare Dis. 2019. PMID: 31801581 Free PMC article.
A rare late progression form of Sly syndrome mucopolysaccharidosis.
Guffon N, Froissart R, Fouilhoux A. Guffon N, et al. Among authors: Fouilhoux A. JIMD Rep. 2019 Jul 29;49(1):1-6. doi: 10.1002/jmd2.12039. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497474 Free PMC article.
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
Husson MC, Schiff M, Fouilhoux A, Cano A, Dobbelaere D, Brassier A, Mention K, Arnoux JB, Feillet F, Chabrol B, Guffon N, Elie C, de Lonlay P. Husson MC, et al. Among authors: Fouilhoux A. Orphanet J Rare Dis. 2016 Sep 23;11(1):127. doi: 10.1186/s13023-016-0513-0. Orphanet J Rare Dis. 2016. PMID: 27663197 Free PMC article.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. Among authors: Fouilhoux A. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778
Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).
Chabrol B, Jacquin P, Francois L, Broué P, Dobbelaere D, Douillard C, Dubois S, Feillet F, Perrier A, Fouilhoux A, Labarthe F, Lamireau D, Mazodier K, Maillot F, Mochel F, Schiff M, Belmatoug N. Chabrol B, et al. Among authors: Fouilhoux A. Arch Pediatr. 2018 Jun 15:S0929-693X(18)30115-5. doi: 10.1016/j.arcped.2018.05.009. Online ahead of print. Arch Pediatr. 2018. PMID: 29914755
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