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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S, Lebigot E, Debruge H, Romero N, Héron B, Gaignard P, Legendre A, Imbard A, Gobin S, Lacène E, Nusbaum P, Hubas A, Desguerre I, Servais A, Laforêt P, van Endert P, Authier FJ, Gitiaux C, de Lonlay P. Montealegre S, et al. Among authors: servais a. Neurol Genet. 2022 Jan 19;8(1):e648. doi: 10.1212/NXG.0000000000000648. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35079622 Free PMC article.
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, Servais A, Barbier V, Dubois S, Touati G, Barouki R, Lesage F, Dupic L, Bonnefont JP, Ottolenghi C, De Lonlay P. Brassier A, et al. Among authors: servais a. Orphanet J Rare Dis. 2015 May 10;10:58. doi: 10.1186/s13023-015-0266-1. Orphanet J Rare Dis. 2015. PMID: 25958381 Free PMC article.
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont JP, Ottolenghi C, de Blic J, Arnoux JB, de Lonlay P. Mauhin W, et al. Among authors: servais a. Orphanet J Rare Dis. 2017 Jan 5;12(1):3. doi: 10.1186/s13023-016-0550-8. Orphanet J Rare Dis. 2017. PMID: 28057010 Free PMC article.
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Pontoizeau C, Roda C, Arnoux JB, Vignolo-Diard P, Brassier A, Habarou F, Barbier V, Grisel C, Abi-Warde MT, Boddaert N, Kuster A, Servais A, Kaminska A, Hennequin C, Dupic L, Lesage F, Touati G, Valayannopoulos V, Chadefaux-Vekemans B, Oualha M, Eisermann M, Ottolenghi C, de Lonlay P. Pontoizeau C, et al. Among authors: servais a. Mol Genet Metab. 2020 Jun;130(2):110-117. doi: 10.1016/j.ymgme.2020.03.003. Epub 2020 Mar 19. Mol Genet Metab. 2020. PMID: 32273051
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort.
Bérat CM, Roda C, Brassier A, Bouchereau J, Wicker C, Servais A, Dubois S, Assoun M, Belloche C, Barbier V, Leboeuf V, Petit FM, Gaignard P, Lebigot E, Bérat PJ, Pontoizeau C, Touati G, Talbotec C, Campeotto F, Ottolenghi C, Arnoux JB, de Lonlay Pascale P. Bérat CM, et al. Among authors: servais a. Mol Genet Metab Rep. 2021 Jan 5;26:100655. doi: 10.1016/j.ymgmr.2020.100655. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33473351 Free PMC article.
Long-term renal outcome in methylmalonic acidemia in adolescents and adults.
Dao M, Arnoux JB, Bienaimé F, Brassier A, Brazier F, Benoist JF, Pontoizeau C, Ottolenghi C, Krug P, Boyer O, de Lonlay P, Servais A. Dao M, et al. Among authors: servais a. Orphanet J Rare Dis. 2021 May 13;16(1):220. doi: 10.1186/s13023-021-01851-z. Orphanet J Rare Dis. 2021. PMID: 33985557 Free PMC article.
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: servais a. 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.
262 results