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Page 1
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T. Čechová A, et al. Among authors: harroche a. J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21. J Inherit Metab Dis. 2020. PMID: 32266963 Free PMC article. Review.
Genome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels.
Munsch G, Proust C, Labrouche-Colomer S, Aïssi D, Boland A, Morange PE, Roche A, de Chaisemartin L, Harroche A, Olaso R, Deleuze JF, James C, Emmerich J, Smadja DM, Jacqmin-Gadda H, Trégouët DA. Munsch G, et al. Among authors: harroche a. NAR Genom Bioinform. 2023 Jun 28;5(2):lqad062. doi: 10.1093/nargab/lqad062. eCollection 2023 Jun. NAR Genom Bioinform. 2023. PMID: 37388819 Free PMC article.
Determinants of adherence and consequences of the transition from adolescence to adulthood among young people with severe haemophilia (TRANSHEMO): A multicentric French national observational cross-sectional study based on the FranceCoag registry.
Nguyen NAT, Auquier P, Beltran Anzola A, Harroche A, Castet S, Huguenin Y, Meunier S, Repesse Y, D'Oiron R, Rauch A, Desprez D, Spiegel A, Chamouni P, Schneider P, Baumstarck K, Boucekine M, Tabele C, Viprey M, Leroy T, Roques MA, Sannie T, Giraud N, Chambost H, Resseguier N; TRANSHEMO Study group. Nguyen NAT, et al. Among authors: harroche a. Haemophilia. 2023 Sep;29(5):1202-1218. doi: 10.1111/hae.14841. Epub 2023 Aug 12. Haemophilia. 2023. PMID: 37572328
Assessing bleeding risk in 18 children with Osteogenesis imperfecta.
Léguillier T, Favier R, Harroche A, Lasne D, Bachelot-Loza C, Borgel D, Boussaroque A, Pascreau T, Lallemant-Dudek P, Gkalea V, Haguet MC, Cormier-Daire V, Beaudeux JL, Monnot S, Lapillonne H, Baujat G, Forin V, Nivet-Antoine V. Léguillier T, et al. Among authors: harroche a. Br J Haematol. 2021 Feb;192(4):785-788. doi: 10.1111/bjh.17303. Epub 2021 Jan 21. Br J Haematol. 2021. PMID: 33475155 No abstract available.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D; University of Washington Center for Mendelian Genomics (UW-CMG); Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH. Ng BG, et al. Among authors: harroche a. Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7. Am J Hum Genet. 2021. PMID: 33964207 Free PMC article.
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.
Raynor A, Haouari W, Ng BG, Cholet S, Harroche A, Raulet-Bussian C, Lounis-Ouaras S, Vuillaumier-Barrot S, Pascreau T, Borgel D, Freeze HH, Fenaille F, Bruneel A. Raynor A, et al. Among authors: harroche a. Clin Chim Acta. 2021 Oct;521:104-106. doi: 10.1016/j.cca.2021.07.005. Epub 2021 Jul 8. Clin Chim Acta. 2021. PMID: 34245688 Free PMC article.
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C, Roux CJ, Goujon L, de Feraudy Y, Hully M, Brassier A, Bérat CM, Chemaly N, Wiedemann A, Damaj L, Abi-Warde MT, Dobbelaere D, Roubertie A, Cano A, Arion A, Kaminska A, Da Costa S, Bruneel A, Vuillaumier-Barrot S, Boddaert N, Pascreau T, Borgel D, Kossorotoff M, Harroche A, de Lonlay P. Wicker C, et al. Among authors: harroche a. Mol Genet Metab. 2023 Nov;140(3):107674. doi: 10.1016/j.ymgme.2023.107674. Epub 2023 Jul 31. Mol Genet Metab. 2023. PMID: 37542768
Emicizumab and asparaginase, A first experience to share.
Goubeau L, Bally C, Borgel D, Alby-Laurent F, Petit A, Frenzel L, Lasne D, Harroche A. Goubeau L, et al. Among authors: harroche a. Haemophilia. 2024 Mar;30(2):561-563. doi: 10.1111/hae.14935. Epub 2024 Jan 19. Haemophilia. 2024. PMID: 38240017 No abstract available.
58 results