Mucopolysaccharidosis VI

por Valayannopoulos, Vassili, Nicely, Helen, Harmatz, Paul, Turbeville, Sean
Publicado 2010

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

por Guffon, Nathalie, Heron, Bénédicte, Chabrol, Brigitte, Feillet, François, Montauban, Vincent, Valayannopoulos, Vassili
Publicado 2015

The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review

por Ford, Charles L., Riggs, William J., Quigley, Tera, Keifer, Orion P., Whitton, Jonathon P., Valayannopoulos, Vassili
Publicado 2023

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience

por Dabaj, Ivana, Gitiaux, Cyril, Avila-Smirnow, Daniela, Ropers, Jacques, Desguerre, Isabelle, Salon, Arielle, Pannier, Stéphanie, Tebani, Abdellah, Valayannopoulos, Vassili, Quijano-Roy, Susana
Publicado 2019

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

por Chakrapani, Anupam, Valayannopoulos, Vassili, Segarra, Nuria García, Del Toro, Mireia, Donati, Maria Alice, García-Cazorla, Angeles, González, María Julieta, Plisson, Celine, Giordano, Vincenzo
Publicado 2018

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

por Unsinn, Caroline, Das, Anibh, Valayannopoulos, Vassili, Thimm, Eva, Beblo, Skadi, Burlina, Alberto, Konstantopoulou, Vassiliki, Mayorandan, Sebene, de Lonlay, Pascale, Rennecke, Jörg, Derbinski, Jens, Hoffmann, Georg F., Häberle, Johannes
Publicado 2016

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

por Pineda, Mercedes, Mengel, Eugen, Jahnová, Helena, Héron, Bénédicte, Imrie, Jackie, Lourenço, Charles M., van der Linden, Vanessa, Karimzadeh, Parvaneh, Valayannopoulos, Vassili, Jesina, Pavel, Torres, Juan V., Kolb, Stefan A.
Publicado 2016

Congenital hyperinsulinism: current trends in diagnosis and therapy

por Arnoux, Jean-Baptiste, Verkarre, Virginie, Saint-Martin, Cécile, Montravers, Françoise, Brassier, Anaïs, Valayannopoulos, Vassili, Brunelle, Francis, Fournet, Jean-Christophe, Robert, Jean-Jacques, Aigrain, Yves, Bellanné-Chantelot, Christine, de Lonlay, Pascale
Publicado 2011

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

por Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Publicado 2012

Suggested guidelines for the diagnosis and management of urea cycle disorders

por Häberle, Johannes, Boddaert, Nathalie, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Huemer, Martina, Karall, Daniela, Martinelli, Diego, Crespo, Pablo Sanjurjo, Santer, René, Servais, Aude, Valayannopoulos, Vassili, Lindner, Martin, Rubio, Vicente, Dionisi-Vici, Carlo
Publicado 2012

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

por Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Cécile, Benoist, Jean-François, Rabier, Daniel, Touati, Guy, de Lonlay, Pascale
Publicado 2013

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

por Hendriksz, Christian J., Burton, Barbara, Fleming, Thomas R., Harmatz, Paul, Hughes, Derralynn, Jones, Simon A., Lin, Shuan-Pei, Mengel, Eugen, Scarpa, Maurizio, Valayannopoulos, Vassili, Giugliani, Roberto, Slasor, Peter, Lounsbury, Debra, Dummer, Wolfgang
Publicado 2014

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

por Brassier, Anais, Gobin, Stephanie, Arnoux, Jean Baptiste, Valayannopoulos, Vassili, Habarou, Florence, Kossorotoff, Manoelle, Servais, Aude, Barbier, Valerie, Dubois, Sandrine, Touati, Guy, Barouki, Robert, Lesage, Fabrice, Dupic, Laurent, Bonnefont, Jean Paul, Ottolenghi, Chris, De Lonlay, Pascale
Publicado 2015

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

por Sabourdy, Frédérique, Mourey, Lionel, Le Trionnaire, Emmanuelle, Bednarek, Nathalie, Caillaud, Catherine, Chaix, Yves, Delrue, Marie-Ange, Dusser, Anne, Froissart, Roseline, Garnotel, Roselyne, Guffon, Nathalie, Megarbane, André, Ogier de Baulny, Hélène, Pédespan, Jean-Michel, Pichard, Samia, Valayannopoulos, Vassili, Verloes, Alain, Levade, Thierry
Publicado 2015

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

por 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
Publicado 2017

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

por Derks, Terry G. J., Rodriguez-Buritica, David F., Ahmad, Ayesha, de Boer, Foekje, Couce, María L., Grünert, Sarah C., Labrune, Philippe, López Maldonado, Nerea, Fischinger Moura de Souza, Carolina, Riba-Wolman, Rebecca, Rossi, Alessandro, Saavedra, Heather, Gupta, Rupal Naik, Valayannopoulos, Vassili, Mitchell, John
Publicado 2021

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

por de Ru, Minke H, Boelens, Jaap J, Das, Anibh M, Jones, Simon A, van der Lee, Johanna H, Mahlaoui, Nizar, Mengel, Eugen, Offringa, Martin, O'Meara, Anne, Parini, Rossella, Rovelli, Attilio, Sykora, Karl-Walter, Valayannopoulos, Vassili, Vellodi, Ashok, Wynn, Robert F, Wijburg, Frits A
Publicado 2011

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

por Langereis, Eveline J, Borgo, Andrea, Crushell, Ellen, Harmatz, Paul R, van Hasselt, Peter M, Jones, Simon A, Kelly, Paula M, Lampe, Christina, van der Lee, Johanna H, Odent, Thierry, Sakkers, Ralph, Scarpa, Maurizio, Schafroth, Matthias U, Struijs, Peter A, Valayannopoulos, Vassili, White, Klane K, Wijburg, Frits A
Publicado 2013

Clinical Features of Lysosomal Acid Lipase Deficiency

por Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut-Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.
Publicado 2015

Betaine anhydrous in homocystinuria: results from the RoCH registry

por Valayannopoulos, Vassili, Schiff, Manuel, Guffon, Nathalie, Nadjar, Yann, García-Cazorla, Angels, Martinez-Pardo Casanova, Mercedes, Cano, Aline, Couce, Maria L., Dalmau, Jaime, Peña-Quintana, Luis, Rigalleau, Vincent, Touati, Guy, Aldamiz-Echevarria, Luis, Cathebras, Pascal, Eyer, Didier, Brunet, Dominique, Damaj, Léna, Dobbelaere, Dries, Gay, Claire, Hiéronimus, Sylvie, Levrat, Virginie, Maillot, François
Publicado 2019