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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
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
Bataille P, Michaud V, Robert MP, Bekel L, Leclerc-Mercier S, Harroche A, Célérier C, Lasseaux E, Borgel D, Bremond-Gignac D, Bodemer C, Arveiler B, Hadj-Rabia S. Bataille P, et al. Among authors: harroche a. Clin Genet. 2020 Mar;97(3):527-528. doi: 10.1111/cge.13655. Epub 2019 Nov 6. Clin Genet. 2020. PMID: 31694064 No abstract available.
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.
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.
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.
Etiology of intracerebral hemorrhage in children: cohort study, systematic review, and meta-analysis.
Boulouis G, Stricker S, Benichi S, Hak JF, Gariel F, Alias Q, de Saint Denis T, Kossorotoff M, Bajolle F, Garzelli L, Beccaria K, Paternoster G, Bourgeois M, Garcelon N, Harroche A, Mancusi RL, Boddaert N, Puget S, Brunelle F, Blauwblomme T, Naggara O. Boulouis G, et al. Among authors: harroche a. J Neurosurg Pediatr. 2021 Jan 1;27(3):357-363. doi: 10.3171/2020.7.PEDS20447. J Neurosurg Pediatr. 2021. PMID: 33385999
58 results