Not logged in DB-OTO Gene Therapy for Inherited Deafness Valayannopoulos, Vassili; Bance, Manohar; Carvalho, Daniela S.; Greinwald Jr, John H.; Harvey, Steven A.; Ishiyama, Akira; Landry, Evie C.; Lowenheim, Hubert; Lustig, Lawrence R.; Manrique, Manuel; Nash, Robert; Polo, Ruben; Pritchett, Cedric V.; Rubinstein, Jay T.; Shearer, A. Eliot; del Castillo, Ignacio; Anderson, Jeffery J.; Corrales, C. Eduardo; Quigley, Tera M.; Riggs, William J.; Weber, Peter; Wilson, Gary; Irvin, Susan C.; Hassan, Hazem E.; Chen, Yanping; Liu, Rong; Drummond, Meghan C.; Sabin, Leah R.; Musser, Bret J.; Yancopoulos, George D.; Kyratsous, Christos A.; Herman, Gary A.; Baras, Aris; Whitton, Jonathon P. Share Save
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Otof gene transfer in DFNB9 mice carrying human founder non-truncating alleles Kim, Yehree; Chung, Yoojin; Kim, Ju Ang; Han, Kyu Hee; Kang, Kwon Woo; Tran, Ngoc-Trinh; Kim, Min Young; Yi, Eunyoung; Jung, Sangyong; Kim, Bong Jik; Artinian, Quynh-Anh; Koehler, Seth D.; Pan, Ning; Gibson, Tyler M.; Becker, Lars; Goodliffe, Joseph W.; Kalker, Molly; Barnes, Madeline; Shaheen, Luke A.; Drummond, Meghan C.; Valayannopoulos, Vassili; Choi, Byung Yoon Share Save
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8) Curie, Aurore; Lion-Francois, Laurence; Valayannopoulos, Vassili; Perreton, Nathalie; Gavanon, Marie; Touil, Nathalie; Brun-Laurisse, Amandine; Gheurbi, Fahra; Buchy, Marion; Halep, Hulya; Cheillan, David; Mercier, Catherine; Brassier, Anais; Desnous, Beatrice; Kassai, Behrouz; De Lonlay, Pascale; Des Portes, Vincent Share Save
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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences Sumathipala, Dulika; Stromme, Petter; Fattahi, Zohreh; Luders, Torben; Sheng, Ying; Kahrizi, Kimia; Einarsen, Ingunn Holm; Sloan, Jennifer L.; Najmabadi, Hossein; van den Heuvel, Lambert; Wevers, Ron A.; Guerrero-Castillo, Sergio; Morkrid, Lars; Valayannopoulos, Vassili; Backe, Paul Hoff; Venditti, Charles P.; van Karnebeek, Clara D.; Nilsen, Hilde; Frengen, Eirik; Misceo, Doriana Share Save
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs Derks, Terry G. J.; Rodriguez-Buritica, David F.; Ahmad, Ayesha; de Boer, Foekje; Couce, Maria L.; Gruenert, Sarah C.; Labrune, Philippe; Lopez Maldonado, Nerea; Fischinger Moura de Souza, Carolina; Riba-Wolman, Rebecca; Rossi, Alessandro; Saavedra, Heather; Gupta, Rupal Naik; Valayannopoulos, Vassili; Mitchell, John Share Save
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders Pontoizeau, Clement; Roda, Celina; Arnoux, Jean-Baptiste; Vignolo-Diard, Patricia; Brassier, Anais; Habarou, Florence; Barbier, Valerie; Grisel, Coraline; Abi-Warde, Marie-Therese; Boddaert, Nathalie; Kuster, Alice; Servais, Aude; Kaminska, Anna; Hennequin, Carole; Dupic, Laurent; Lesage, Fabrice; Touati, Guy; Valayannopoulos, Vassili; Chadefaux-Vekemans, Bernadette; Oualha, Mehdi; Eisermann, Monika; Ottolenghi, Chris; de Lonlay, Pascale Share Save
Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience Dabaj, Ivana; Gitiaux, Cyril; Avila-Smirnow, Daniela; Ropers, Jacques; Desguerre, Isabelle; Salon, Arielle; Pannier, Stephanie; Tebani, Abdellah; Valayannopoulos, Vassili; Quijano-Roy, Susana Share Save
Betaine anhydrous in homocystinuria: results from the RoCH registry Valayannopoulos, Vassili; Schiff, Manuel; Guffon, Nathalie; Nadjar, Yann; Garcia-Cazorla, Angels; Martinez-Pardo Casanova, Mercedes; Cano, Aline; Couce, Maria L.; Dalmau, Jaime; Pena-Quintana, Luis; Rigalleau, Vincent; Touati, Guy; Aldamiz-Echevarria, Luis; Cathebras, Pascal; Eyer, Didier; Brunet, Dominique; Damaj, Lena; Dobbelaere, Dries; Gay, Claire; Hieronimus, Sylvie; Levrat, Virginie; Maillot, Francois Share Save
Alglucosidase alfa inhibitory antibodies and clinical correlates in treatment-naive late-onset Pompe disease patients in the late onset treatment study (LOTS) over 78 weeks: A new post hoc analysis Valayannopoulos, Vassili; Sung, Crystal; Lei, Quanhong; Foster, Meredith; Haack, Kristina An; Araujo, Roberto; Hug, Christopher; Neilan, Edward; Thibault, Nathan; Sparks, Susan; Richards, Susan Share Save
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Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study Jones, Simon A.; Rojas-Caro, Sandra; Quinn, Anthony G.; Friedman, Mark; Marulkar, Sachin; Ezgu, Fatih; Zaki, Osama; Gargus, J. Jay; Hughes, Joanne; Plantaz, Dominique; Vara, Roshni; Eckert, Stephen; Arnoux, Jean-Baptiste; Brassier, Anais; Le Quan Sang, Kim-Hanh; Valayannopoulos, Vassili Share Save
Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency Friedman, Mark; Jones, Simon A.; Brassier, Anais; Hughes, Joanne; Plantaz, Dominique; Vara, Roshni; Breen, Catherine; Gargus, J. Jay; Marulkar, Sachin; Valayannopoulos, Vassili Share Save
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Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013 Unsinn, Caroline; Das, Anibh; Valayannopoulos, Vassili; Thimm, Eva; Beblo, Skadi; Burlina, Alberto; Konstantopoulou, Vassiliki; Mayorandan, Sebene; de Lonlay, Pascale; Rennecke, Joerg; Derbinski, Jens; Hoffmann, Georg F.; Haberle, Johannes Share Save
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants Jones, Simon A.; Valayannopoulos, Vassili; Schneider, Eugene; Eckert, Stephen; Banikazemi, Maryam; Bialer, Martin; Cederbaum, Stephen; Chan, Alicia; Dhawan, Anil; Di Rocco, Maja; Domm, Jennifer; Enns, Gregory M.; Finegold, David; Gargus, J. Jay; Guardamagna, Ornella; Hendriksz, Christian; Mahmoud, Iman G.; Raiman, Julian; Selim, Laila A.; Whitley, Chester B.; Zaki, Osama; Quinn, Anthony G. Share Save
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