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Page 1
Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.
de Lonlay P, Posset R, Mütze U, Mention K, Lamireau D, Schiff M, Servais A, Arnoux JB, Brassier A, Dao M, Douillard C, Ottolenghi C, Pontoizeau C, Miotto F, Le Mouhaër J. de Lonlay P, et al. Among authors: lamireau d. JIMD Rep. 2021 Mar 6;59(1):110-119. doi: 10.1002/jmd2.12207. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977036 Free PMC article.
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
Neurocognitive profiles in MSUD school-age patients.
Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. Among authors: lamireau d. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240
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. Among authors: lamireau d. 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
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
Kuster A, Arnoux JB, Barth M, Lamireau D, Houcinat N, Goizet C, Doray B, Gobin S, Schiff M, Cano A, Amsallem D, Barnerias C, Chaumette B, Plaze M, Slama A, Ioos C, Desguerre I, Lebre AS, de Lonlay P, Christa L; Individual contributors who contributed to this work. Kuster A, et al. Among authors: lamireau d. J Inherit Metab Dis. 2018 Jan;41(1):129-139. doi: 10.1007/s10545-017-0079-6. Epub 2017 Sep 18. J Inherit Metab Dis. 2018. PMID: 28924877
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: lamireau d. 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
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
Cano A, Resseguier N, Ouattara A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Chabrol B, Auquier P. Cano A, et al. Among authors: lamireau d. J Pediatr. 2020 May;220:184-192.e6. doi: 10.1016/j.jpeds.2020.01.059. Epub 2020 Mar 4. J Pediatr. 2020. PMID: 32145964
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
Ouattara A, Resseguier N, Cano A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Auquier P, Chabrol B. Ouattara A, et al. Among authors: lamireau d. J Pediatr. 2022 Mar;242:192-200.e3. doi: 10.1016/j.jpeds.2021.11.021. Epub 2021 Nov 14. J Pediatr. 2022. PMID: 34788681
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
Ouattara A, Resseguier N, Cano A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Auquier P, Chabrol B. Ouattara A, et al. Among authors: lamireau d. J Pediatr. 2023 Mar;254:39-47.e4. doi: 10.1016/j.jpeds.2022.08.060. Epub 2022 Oct 17. J Pediatr. 2023. PMID: 36265570
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients.
Tuchmann-Durand C, Roda C, Renard P, Mortamet G, Bérat CM, Altenburger L, de Larauz MH, Thevenet E, Cottart CH, Moulin F, Bouchereau J, Brassier A, Arnoux JB, Schiff M, Bednarek N, Lamireau D, Garros A, Mention K, Cano A, Finger L, Pelosi M, Brochet CS, Caccavelli L, Raphalen JH, Renolleau S, Oualha M, de Lonlay P. Tuchmann-Durand C, et al. Among authors: lamireau d. J Inherit Metab Dis. 2023 Jul;46(4):649-661. doi: 10.1002/jimd.12592. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36680547
34 results