Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Fairouz Koraichi"'
Autor:
Malek Bouassida, Denise Molina‐Gomes, Fairouz Koraichi, Bérénice Hervé, Morgane Lhuilier, Clémence Duvillier, Jessica Le Gall, Marion Gauthier‐Villars, Valérie Serazin, Thibaud Quibel, Rodolphe Dard, François Vialard
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant duplications and defining the mechanisms underlying the
Externí odkaz:
https://doaj.org/article/af6164b5d9da485aafb99171c8d09aba
Autor:
Foudil Lamari, Wladimir Mauhin, Fairouz Koraichi, Walid Khrouf, Celine Bordet, Jonathan London, Olivier Lidove, Philippe Charron
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Fabry disease (OMIM 301500) is an X‐linked disorder caused by alpha‐galactosidase A (α‐Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been repor
Externí odkaz:
https://doaj.org/article/a742fad4d88b496b89476a8d04c32319
Autor:
Caroline Coriat, Chiara Lenzetti, Elisa Marziali, Dominique P. Germain, Michel Paques, Ilaria Tanini, Stanislao Rizzo, Andrea Sodi, Gianni Virgili, Bianca Pacini, Patrizia Nencini, Iacopo Olivotto, Daniela Bacherini, Fairouz Koraichi, Lucia Finocchio
Publikováno v:
Retina
Retina, 2020, 40 (8), pp.1623-1629. ⟨10.1097/IAE.0000000000002648⟩
Retina, 2020, 40 (8), pp.1623-1629. ⟨10.1097/IAE.0000000000002648⟩
International audience; PURPOSE: To report a novel finding in patients with Fabry disease, that is, the observation by adaptive optics ophthalmoscopy of intracellular lipidic deposits in retinal vessels. METHODS: Observational two-center case series.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f59b57addba85d8df01c4fbecb91af7
http://hdl.handle.net/2158/1180369
http://hdl.handle.net/2158/1180369
Autor:
Walid Khrouf, F. Lamari, Céline Bordet, Fairouz Koraichi, Jonathan London, Philippe Charron, Olivier Lidove, Wladimir Mauhin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Molecular Genetics and Genomic Medicine
Molecular Genetics and Genomic Medicine, In press, ⟨10.1002/mgg3.894⟩
Molecular Genetics and Genomic Medicine, Wiley, In press, ⟨10.1002/mgg3.894⟩
Molecular Genetics & Genomic Medicine
Molecular Genetics and Genomic Medicine
Molecular Genetics and Genomic Medicine, In press, ⟨10.1002/mgg3.894⟩
Molecular Genetics and Genomic Medicine, Wiley, In press, ⟨10.1002/mgg3.894⟩
Molecular Genetics & Genomic Medicine
International audience; BACKGROUND: Fabry disease (OMIM 301500) is an X-linked disorder caused by alpha-galactosidase A (α-Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has