Zobrazeno 1 - 10
of 647
pro vyhledávání: '"Jean Charles, Deybach"'
Autor:
Arienne Mirmiran, Antoine Poli, Cecile Ged, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Raêd Daher, Boualem Moulouel, Katell Peoc'h, Sylvie Simonin, Jean-Marc Blouin, Jean-Charles Deybach, Gaël Nicolas, Hervé Puy, Emmanuel Richard, Laurent Gouya
Publikováno v:
Haematologica, Vol 106, Iss 3 (2020)
Externí odkaz:
https://doaj.org/article/3018d12d818e44ffa5ca8c1e5ce3ef91
Autor:
Sarah Millot, Constance Delaby, Boualem Moulouel, Thibaud Lefebvre, Nathalie Pilard, Nicolas Ducrot, Cécile Ged, Philippe Lettéron, Lucia de Franceschi, Jean Charles Deybach, Carole Beaumont, Laurent Gouya, Hubert De Verneuil, Saïd Lyoumi, Hervé Puy, Zoubida Karim
Publikováno v:
Haematologica, Vol 102, Iss 2 (2017)
Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of hemoglobin into the bloodstream, but the mechanism of hemoglobin handling has not been fully elucida
Externí odkaz:
https://doaj.org/article/aac1a1886b7c4ca28849a86641e56d33
Publikováno v:
Journal of Hepatology. 71:422-433
Porphyrias are rare inherited disorders caused by specific enzyme dysfunctions in the haem synthesis pathway, which result in abnormal accumulation of specific pathway intermediates. The symptoms depend upon the chemical characteristics of these subs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::948b56b6bbbdceb3da1bf6e1d848b423
https://doi.org/10.1016/j.jhep.2019.05.003
https://doi.org/10.1016/j.jhep.2019.05.003
Autor:
Antoine Poli, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Boualem Moulouel, Arienne Mirmiran, Katell Peoc'h, Sylvie Simonin, Hervé Puy, Vincent Oustric, Zoubida Karim, Jean-Jacques Lacapère, Jean-Charles Deybach, Hugo Lenglet, Raed Daher, Gaël Nicolas, Laurent Gouya
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.341-347. ⟨10.1016/j.ajhg.2018.12.021⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.341-347. ⟨10.1016/j.ajhg.2018.12.021⟩
Erythropoietic protoporphyria (EPP) is a hereditary disease characterized by a deficiency in ferrochelatase (FECH) activity. FECH activity is responsible for the accumulation of protoporphyrin IX (PPIX). Without etiopathogenic treatment, EPP manifest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4802adc34cc0a201ba831d3bae76f44
https://doi.org/10.1016/j.ajhg.2018.12.021
https://doi.org/10.1016/j.ajhg.2018.12.021
Autor:
Nicolas Poté, René Farcy, Hervé Puy, Fouad Lafdil, Charlotte Benoit, Jean-Charles Deybach, J. Calderaro, E. Itti, Laurent Gouya, Caroline Schmitt, Aurélie Rodrigues, Valérie Vilgrain, Sébastien Mulé, Valérie Paradis, Cécile Charpy, Alain Luciani, Sylvie Simonin
Publikováno v:
European radiology. 32(4)
To assess the performance of 405 nm-induced autofluorescence for the characterization of primary liver nodules on ex vivo resected specimens.Forty resected liver specimens bearing 53 primary liver nodules were included in this IRB-approved prospectiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2295619b33b3e08716a458bd286ae15c
https://pubmed.ncbi.nlm.nih.gov/34694452
https://pubmed.ncbi.nlm.nih.gov/34694452
Autor:
Herbert L. Bonkovsky, D. Montgomery Bissell, Félix Alegre, Amy Simon, Aasne K. Aarsand, Shangbin Liu, Karl E. Anderson, Robert J. Desnick, Michael Norman Badminton, Penelope E. Stein, Neila Talbi, Maria Domenica Cappellini, Amy Chan, Pauline Harper, Elisabeth I. Minder, Manisha Balwani, Janice Andersen, Laurent Gouya, Raili Kauppinen, William Querbes, David C. Rees, Hetanshi Naik, Janneke G. Langendonk, Sverre Sandberg, Aneta Ivanova, John D. Phillips, Tim Lin, John J. Ko, Radan Bruha, Ulrich Stölzel, Eliane Sardh, Jerzy Windyga, Charles J. Parker, Jean Charles Deybach, Craig Penz, Paolo Ventura
Publikováno v:
Gouya, L, Ventura, P, Balwani, M, Bissell, D M, Rees, D C, Stölzel, U, Phillips, J D, Kauppinen, R, Langendonk, J G, Desnick, R J, Deybach, J C, Bonkovsky, H L, Parker, C, Naik, H, Badminton, M, Stein, P E, Minder, E, Windyga, J, Bruha, R, Cappellini, M D, Sardh, E, Harper, P, Sandberg, S, Aarsand, A K, Andersen, J, Alegre, F, Ivanova, A, Talbi, N, Chan, A, Querbes, W, Ko, J, Penz, C, Liu, S, Lin, T, Simon, A & Anderson, K E 2019, ' EXPLORE : A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks ', Hepatology . https://doi.org/10.1002/hep.30936
Hepatology, 71(5), 1546-1558. John Wiley & Sons Ltd.
Hepatology (Baltimore, Md.)
Hepatology, 71(5), 1546-1558. John Wiley & Sons Ltd.
Hepatology (Baltimore, Md.)
Acute hepatic porphyria comprises a group of rare, genetic diseases caused by mutations in genes involved in heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, and long-term complications. There is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4d56697a99116329133661e8d7e805
http://hdl.handle.net/10138/316254
http://hdl.handle.net/10138/316254
Autor:
Cécile Ged, Hervé Puy, Jean-Charles Deybach, Laurent Gouya, Raed Daher, Boualem Moulouel, Arienne Mirmiran, Emmanuel Richard, Thibaud Lefebvre, Gaël Nicolas, Caroline Schmitt, Katell Peoc'h, Sylvie Simonin, Hana Manceau, Jean-Marc Blouin, Antoine Poli
Publikováno v:
Haematologica
Haematologica, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
Haematologica, Ferrata Storti Foundation, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
Haematologica, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
Haematologica, Ferrata Storti Foundation, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
International audience; Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by impaired activity of uroporphyrinogen III synthase, the fourth enzyme of the heme biosynthetic pathway. Massive accumulation of porphyri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f182c22ab3e6ab8e57170a616c33a84
https://www.hal.inserm.fr/inserm-02441267/document
https://www.hal.inserm.fr/inserm-02441267/document
Publikováno v:
La Revue de Médecine Interne. 37:173-185
The hereditary porphyrias comprise a group of eight metabolic disorders of the haem biosynthesis pathway characterised by acute neurovisceral symptoms, skin lesions or both. Each porphyria is caused by abnormal function of a separate enzymatic step r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f99386115b500e8a4bde11aa1984ca19
https://doi.org/10.1016/j.revmed.2015.12.005
https://doi.org/10.1016/j.revmed.2015.12.005
Autor:
D. Montgomery Bissell, Herbert L. Bonkovsky, Laurent Gouya, Aasne K. Aarsand, Edith C. H. Friesema, Sverre Sandberg, Michael Norman Badminton, Ylva Floderus, Raili Kauppinen, Yedidyah Weiss, Brenden Chen, Caroline Schmitt, Hervé Puy, Pauline Harper, Karl E. Anderson, Jean Charles Deybach, Yonina Loskove, Robert J. Desnick, Sharon D. Whatley, Makiko Yasuda, John D. Phillips, Pavel Martásek, Jordi To-Figueras, Maria Domenica Cappellini
Publikováno v:
Genetics in Medicine, 21(11), 2605-2613. Lippincott Williams & Wilkins
Genet Med
Genet Med
With the advent of precision and genomic medicine, a critical issue is whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5f2f2b4a47181e8781f744c1a6e1660
https://pure.eur.nl/en/publications/2e8660e2-4fa5-4786-bb8b-7476fb2b2685
https://pure.eur.nl/en/publications/2e8660e2-4fa5-4786-bb8b-7476fb2b2685
Publikováno v:
Trends in molecular medicine. 25(1)
The potential of mRNA to produce therapeutic and protective protein levels is a promising approach for the treatment of a large number of diseases. In a recent study published in Nature Medicine (Published online October 8, 2018. doi.org/10.1038/s415
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1c130e0f5dd43dc5e2f3b3dcfba4128
https://pubmed.ncbi.nlm.nih.gov/30528119
https://pubmed.ncbi.nlm.nih.gov/30528119