Search Results - Gaële Pitelet

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  1. 1
    Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

    Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin by Peter Huppke, Cornelia Brendel, Vera M. Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaële Pitelet, Callum Wilson, U Gruber‐Sedlmayr, Reinhard Ullmann, Stefan A. Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner

    Published 2012
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  2. 2
    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia by Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Éric Bieth, Maha S. Zaki, Meral Topçu, Fatma Müjgan Sönmez, Damir Musaev, Valentina Stanley, Christine Bôle‐Feysot, Patrick Nitschké, Arnold Münnich, Nadia Bahi‐Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Bürglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

    Published 2020
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  3. 3
    Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

    Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pom... by I. Ditters, Hidde H. Huidekoper, Michelle E. Kruijshaar, Dimitris Rizopoulos, Andreas Hahn, Tiziana Mongini, François Labarthe, M. Tardieu, B. Chabrol, Anaïs Brassier, Rossella Parini, Giancarlo Parenti, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Johanna M. P. van den Hout, Eugen Mengel, Julia B. Hennermann, Martin Smitka, Nicole Muschol, Thorsten Marquardt, Martina Marquardt, Charlotte Thiels, Marco Spada, Veronica Pagliardini, Francesca Menni, Roberto Della Casa, Federica Deodato, Serena Gasperini, Alberto Burlina, Alice Donati, Samia Pichard, François Feillet, Frédéric Huet, Karine Mention, Didier Eyer, Alice Kuster, Caroline Espil Taris, Jérémie Lefranc, Magalie Barth, H. Bruel, L. Chevret, Gaële Pitelet, Catherine Pitelet, François Rivier, Dries Dobbelaere

    Published 2021
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