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Page 1
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C. Pontoizeau C, et al. JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27. JIMD Rep. 2016. PMID: 26409463 Free PMC article.
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Brassier A, Ottolenghi C, Boddaert N, Sonigo P, Attié-Bitach T, Millischer-Bellaiche AE, Baujat G, Cormier-Daire V, Valayannopoulos V, Seta N, Piraud M, Chadefaux-Vekemans B, Vianey-Saban C, Froissart R, de Lonlay P. Brassier A, et al. Arch Pediatr. 2012 Sep;19(9):959-69. doi: 10.1016/j.arcped.2012.06.002. Epub 2012 Aug 9. Arch Pediatr. 2012. PMID: 22884749 French.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Sala PR, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden MG, Garcia-Villoria J, Heiner-Fokkema MR, Jeannesson-Thivisol E, Leckstrom K, Franzson L, Lynes G, Olesen J, Onkenhout W, Petrou P, Drousiotou A, Ribes A, Vianey-Saban C, Merinero B. Sala PR, et al. JIMD Rep. 2016;30:23-31. doi: 10.1007/8904_2016_533. Epub 2016 Feb 23. JIMD Rep. 2016. PMID: 26898293 Free PMC article.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Olsen RKJ, et al. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006. Am J Hum Genet. 2016. PMID: 27259049 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. 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
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.
Faoucher M, Poulat AL, Chatron N, Labalme A, Schluth-Bolard C, Till M, Vianey-Saban C, Portes VD, Edery P, Sanlaville D, Lesca G, Acquaviva C. Faoucher M, et al. Among authors: vianey saban c. Mol Genet Metab Rep. 2019 Nov 1;21:100509. doi: 10.1016/j.ymgmr.2019.100509. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31720226 Free PMC article.
142 results