H
Hervé Puy
Researcher at University of Paris
Publications - 187
Citations - 7086
Hervé Puy is an academic researcher from University of Paris. The author has contributed to research in topics: Acute intermittent porphyria & Porphyria. The author has an hindex of 41, co-authored 179 publications receiving 5887 citations. Previous affiliations of Hervé Puy include CHU Ambroise Paré & Paris Diderot University.
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Journal ArticleDOI
Gene Therapy in a Patient with Sickle Cell Disease.
Jean-Antoine Ribeil,Salima Hacein-Bey-Abina,Emmanuel Payen,Alessandra Magnani,Michaela Semeraro,Elisa Magrin,Laure Caccavelli,Bénédicte Neven,Philippe Bourget,Wassim El Nemer,Pablo Bartolucci,Leslie Weber,Hervé Puy,Jean-François Meritet,David Grevent,Yves Beuzard,Stany Chrétien,Thibaud Lefebvre,Robert W. Ross,Olivier Negre,Gabor Istvan Veres,Laura Sandler,Sandeep Soni,Mariane de Montalembert,Stéphane Blanche,Philippe Leboulch,Marina Cavazzana +26 more
TL;DR: First patient treated with lentiviral vector–mediated addition of an antisickling β‐globin gene into autologous hematopoietic stem cells without recurrence of sickle crises and with correction of the biologic hallmarks of the disease is described.
Journal ArticleDOI
Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia
Alexis A. Thompson,Mark C. Walters,Janet L. Kwiatkowski,John E.J. Rasko,John E.J. Rasko,John E.J. Rasko,Jean-Antoine Ribeil,Suradej Hongeng,Elisa Magrin,Gary J. Schiller,Emmanuel Payen,Michaela Semeraro,Despina Moshous,François Lefrère,Hervé Puy,Philippe Bourget,Alessandra Magnani,Laure Caccavelli,Jean-Sebastien Diana,Felipe Suarez,Fabrice Monpoux,Valentine Brousse,Catherine Poirot,Catherine Poirot,Chantal Brouzes,Jean-François Meritet,Corinne Pondarré,Yves Beuzard,Stany Chrétien,Thibaud Lefebvre,David T. Teachey,Usanarat Anurathapan,P. Joy Ho,P. Joy Ho,Christof von Kalle,Morris Kletzel,Elliott Vichinsky,Sandeep Soni,Gabor Istvan Veres,Olivier Negre,Robert W. Ross,David Davidson,Alexandria Petrusich,Laura Sandler,Mohammed Asmal,Olivier Hermine,Mariane de Montalembert,Salima Hacein-Bey-Abina,Stéphane Blanche,Philippe Leboulch,Philippe Leboulch,Philippe Leboulch,Marina Cavazzana +52 more
TL;DR: Gene therapy with autologous CD34+ cells transduced with the BB305 vector reduced or eliminated the need for long‐term red‐cell transfusions in 22 patients with severe β‐thalassemia without serious adverse events related to the drug product.
Journal ArticleDOI
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
Sharon D. Whatley,Sarah Ducamp,Laurent Gouya,Bernard Grandchamp,Carole Beaumont,Michael Norman Badminton,George H. Elder,S. Alexander Holme,Alexander Vincent Anstey,Michelle Parker,Anne V. Corrigall,P.N. Meissner,Richard J Hift,Joanne T Marsden,Yun Ma,Giorgina Mieli-Vergani,Jean-Charles Deybach,Hervé Puy +17 more
TL;DR: Eight families with ALAS2 deletions, either c.1706-1709 delAGTG (p.E569GfsX24) or c.1699-1700 delAT ( p.M567EfsX2), resulting in frameshifts that lead to replacement or deletion of the 19-20 C-terminal residues of the enzyme, cause X-linked sideroblastic anemia, a previously unrecognized form of porphyria.
Journal ArticleDOI
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
Laurent Gouya,Hervé Puy,A. M. Robreau,Monique Bourgeois,Jérôme Lamoril,Vasco Da Silva,Bernard Grandchamp,Jean-Charles Deybach +7 more
TL;DR: An intronic single nucleotide polymorphism (SNP) is identified, IVS3–48T/C, that modulates the use of a constitutive aberrant acceptor splice site in EPP and produces a decreased steady-state level of mRNA and the additional FECH enzyme deficiency necessary for EPP phenotypic expression.
Journal ArticleDOI
Performance of PIVKA-II for early hepatocellular carcinoma diagnosis and prediction of microvascular invasion.
Nicolas Poté,Nicolas Poté,François Cauchy,François Cauchy,Miguel Albuquerque,Hélène Voitot,Jacques Belghiti,Laurent Castera,Hervé Puy,Hervé Puy,Pierre Bedossa,Pierre Bedossa,Valérie Paradis,Valérie Paradis +13 more
TL;DR: PIVKA-II was more efficient than AFP for the diagnosis of early HCC, and could be used as a predictive biomarker of MVI.