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Page 1
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: chabrol b. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
Clinical phenotype associated with TANGO2 gene mutation.
Hoebeke C, Cano A, De Lonlay P, Chabrol B. Hoebeke C, et al. Among authors: chabrol b. Arch Pediatr. 2021 Jan;28(1):80-86. doi: 10.1016/j.arcped.2020.11.004. Epub 2020 Dec 17. Arch Pediatr. 2021. PMID: 33342685
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: chabrol b. 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
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Marelli C, Fouilhoux A, Benoist JF, De Lonlay P, Guffon-Fouilhoux N, Brassier A, Cano A, Chabrol B, Pennisi A, Schiff M, Acquaviva C, Murphy E, Servais A, Lachmann R. Marelli C, et al. Among authors: chabrol b. J Inherit Metab Dis. 2022 Sep;45(5):937-951. doi: 10.1002/jimd.12525. Epub 2022 Jun 23. J Inherit Metab Dis. 2022. PMID: 35618652 Free PMC article.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
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: chabrol b. 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
[Fabry disease in childhood].
Chabrol B, Mansour H, Cano A. Chabrol B, et al. Presse Med. 2007 Mar;36 Spec No 1:1S32-5. Presse Med. 2007. PMID: 17546765 Review. French.
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. Among authors: chabrol b. 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
[Mucopolysaccharidoses: diagnosis and management].
Chabrol B, Cano A. Chabrol B, et al. Arch Pediatr. 2014 Jun;21 Suppl 1:S1-3. doi: 10.1016/S0929-693X(14)72252-3. Arch Pediatr. 2014. PMID: 25063378 French. No abstract available.
336 results