Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Pauline, D'Halluin"'
Autor:
Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove
Publikováno v:
PLoS ONE, Vol 15, Iss 5, p e0233460 (2020)
BACKGROUD:Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early s
Externí odkaz:
https://doaj.org/article/689a2edfa43d4ed89aefddaf3cda906d
Autor:
Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies (ERT) have
Externí odkaz:
https://doaj.org/article/2330ea9cdd2243ae9ab95d07271dc352
Autor:
Hannah, Kaminski, Mickael, Gigan, Agathe, Vermorel, Manon, Charrier, Laura, Guirle, Frederic, Jambon, Arthur, Lacapère, Coline, Ménard, Karine, Moreau, Martine, Neau-Cransac, Marine, Novion, Frederique, Pribat, Benjamin, Taton, Sébastien, Borde, Laure, Burguet, Charlie, Martinez, Magali, Jasiek, Pauline, D'Halluin, Marie-Edith, Lafon, Pierre, Merville, Lionel, Couzi
Publikováno v:
Kidney International. 102:936-938
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::385c49cea722b078d526c63e38d53286
https://doi.org/10.1016/j.kint.2022.07.008
https://doi.org/10.1016/j.kint.2022.07.008
Publikováno v:
Néphrologie et Thérapeutique
Néphrologie et Thérapeutique, Elsevier Masson, 2020, 16, pp.191-196. ⟨10.1016/j.nephro.2019.12.004⟩
Néphrologie et Thérapeutique, Elsevier Masson, 2020, 16, pp.191-196. ⟨10.1016/j.nephro.2019.12.004⟩
Respect of patient's autonomy is essential. So that patients are able to write their advance directives in case of a situation where they are unable to make decisions for themselves. Currently, few people have written advance directives. We studied t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193432c188411a94245e8bc30cbc6029
https://hal.archives-ouvertes.fr/hal-03492546
https://hal.archives-ouvertes.fr/hal-03492546
Autor:
Marie Matignon, Olivier Benveniste, Agathe Masseau, Kim-Heang Ly, Didier Lacombe, Gérard Besson, François Maillot, Christian Lavigne, D. Amelin, Esther Noel, Foudil Lamari, Catherine Caillaud, Wladimir Mauhin, Hélène Maillard, Olivier Lidove, C. Montagner, Thierry Zenone, Marjolaine Willems, Vanessa Leguy-Seguin, Pauline D’Halluin, Bertrand Dussol, Fabien Labombarda, Claire Douillard
Publikováno v:
PLoS ONE
PLoS ONE, Public Library of Science, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
PLoS ONE, Vol 15, Iss 5, p e0233460 (2020)
PLoS ONE, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
PLoS ONE, Public Library of Science, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
PLoS ONE, Vol 15, Iss 5, p e0233460 (2020)
PLoS ONE, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
International audience; Backgroud: Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6548e833adef8aed2cbae0f87965da0
https://hal.sorbonne-universite.fr/hal-02871577/document
https://hal.sorbonne-universite.fr/hal-02871577/document
Publikováno v:
Nephrologietherapeutique. 16(4)
Respect of patient's autonomy is essential. So that patients are able to write their advance directives in case of a situation where they are unable to make decisions for themselves. Currently, few people have written advance directives. We studied t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a0d6ac01eca0f89a87484715eb436834
https://pubmed.ncbi.nlm.nih.gov/32605864
https://pubmed.ncbi.nlm.nih.gov/32605864