未登录Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
Cousyn, Louis; Law-Ye, Bruno; Pyatigorskaya, Nadya; Debs, Rabab; Froissart, Roseline; Piraud, Monique; Federico, Antonio; Salvatore, Simona; Cerase, Alfonso; Macario, Maria C.; Duraes, Joao; Kim, Seung H.; Adachi, Hiroshi; Audoin, Bertrand; Ayrignac, Xavier; Da, Yuwei; Henderson, Robert; La Piana, Roberta; Laule, Cornelia; Nakamagoe, Kiyotaka; Raininko, Raili; Schols, Ludger; Sirrs, Sandra M.; Viader, Fausto; Jastrzebski, Karol; Leclercq, Delphine; Nadjar, Yann .png)
分享.png)
收藏Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysisTebani, Abdellah; Abily-Donval, Lenaig; Schmitz-Afonso, Isabelle; Heron, Benedicte; Piraud, Monique; Ausseil, Jerome; Zerimech, Farid; Gonzalez, Bruno; Marret, Stephane; Afonso, Carlos; Bekri, Soumeya 分享 收藏 Intracerebral gene therapy in children with metachromatic leukodystrophy: Results of a phase I/II trialSevin, Caroline; Roujeau, Thomas; Cartier, Nathalie; Baugnon, Thomas; Adamsbaum, Catherine; Piraud, Monique; Martino, Sabata; Mouiller, Philippe; Couzinie, Celia; Bellesme, Celine; Lalande, Clemence Castaignede; Cormary, Carine; Souweidane, Mark M.; Colle, Marie-Anne; Adjali, Oumeya; Sondhi, Dolan; Crystal, Ronald G.; Aubourg, Patrick; Zerah, Michel 分享 收藏 Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modelingTebani, Abdellah; Schmitz-Afonso, Isabelle; Abily-Donval, Lenaig; Heron, Benedicte; Piraud, Monique; Ausseil, Jerome; Brassier, Anais; De Lonlay, Pascale; Zerimech, Farid; Vaz, Frederic M.; Gonzalez, Bruno J.; Marret, Stephane; Afonso, Carlos; Bekri, Soumeya 分享 收藏 Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe diseasePapadopoulos, Constantinos; Orlikowsld, David; Prigent, Helene; Lacour, Arnaud; Tard, Celine; Furby, Alain; Praline, Julien; Sole, Guilhem; Hogrel, Jean-Yves; De Antonio, Marie; Semplicini, Claudio; Deibener-Kaminsky, Joelle; Kaminsky, Pierre; Eymard, Bruno; Taouagh, Nadjib; Perniconi, Barbara; Hamroun, Dalil; Laforet, Pascal; Bassez, G.; Bedat-Millet, A. -L.; Behin, A.; Eymard, B.; Leonard -Louis, S.; Stojkovic, T.; Canal, A.; Decostre, V.; Bouhour, F.; Boyer, F.; Caillaud, C.; Castaing, Y.; Chapon, F.; Cintas, P.; Durieu, I.; Echaniz-Laguna, A.; Feasson, L.; Ferrer, X.; Froissart, R.; Piraud, M.; Germain, D.; Benistan, K.; Guffon-Fouilhoux, N.; Journel, H.; Labauge, P.; Levy, A.; Magot, A.; Pereon, Y.; Minot-Myhie, M-C; Nadaj-Pakleza, A.; Nathier, C.; Pellegrini, N.; Petiot, P.; Lofaso, N.; Dutry, A.; Renard, D.; Sacconi, S.; Desnuelle, C.; Salort-Campana, E.; Pouget, J.; Tiffreau, V.; Vincent, D.; Zagnoli, F. 分享 收藏 Metabolic phenotyping of mucopolysaccharidoses using untargeted liquid chromatography ion mobility mass spectrometry-based strategyTebani, Abdellah; Abily-Donval, Lenaig; Schmitz-Afonso, Isabelle; Heron, Benedicte; Piraud, Monique; Ausseil, Jerome; Zerimech, Farid; Brassier, Anais; De Lonlay, Pascale; Levade, Thierry; Marrett, Stephane; Afonso, Carlos; Bekri, Soumeya 分享 收藏 A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic AnemiaMamoune, Asmaa; Bahuau, Michel; Hamel, Yamina; Serre, Valerie; Pelosi, Michele; Habarou, Florence; Morel, Marie-Ange Nguyen; Boisson, Bertrand; Vergnaud, Sabrina; Viou, Mai Thao; Nonnenmacher, Luc; Piraud, Monique; Nusbaum, Patrick; Vamecq, Joseph; Romero, Norma; Ottolenghi, Chris; Casanova, Jean-Laurent; de Lonlay, Pascale 分享 收藏 分享 收藏 Multiple Phenotypes in Phosphoglucomutase 1 Deficiency磷酸葡萄糖变现酶1缺乏症的多种表型Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M. -E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforet, P.; Petit, F.; Aumaitre, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T. 分享 收藏 Fat and Carbohydrate Metabolism During Exercise in Phosphoglucomutase Type 1 DeficiencyPreisler, Nicolai; Laforet, Pascal; Echaniz-Laguna, Andoni; Orngreen, Mette C.; Lonsdorfer-Wolf, Evelyne; Doutreleau, Stephane; Geny, Bernard; Stojkovic, Tanya; Piraud, Monique; Petit, Francois M.; Vissing, John 分享 收藏 Acute but transient neurological deterioration revealing adult polyglucosan body diseaseBillot, Segolene; Herve, Dominique; Akman, Hasan O.; Froissart, Roseline; Baussan, Christiane; Claeys, Kristl G.; Piraud, Monique; Sedel, Frederic; Mochel, Fanny; Laforet, Pascal 分享 收藏 分享 收藏 分享 收藏 The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectivesReuser, Arnold J.; Verheijen, Frans W.; Bali, Deeksha; van Diggelen, Otto P.; Germain, Dominique P.; Hwu, Wuh-Liang; Lukacs, Zoltan; Muehl, Adolf; Olivova, Petra; Piraud, Monique; Wuyts, Birgit; Zhang, Kate; Keutzer, Joan 分享 收藏 Current French Pompe Prevalence Study (French PoPS)Sacconi, S.; Piraud, M.; Echaniz-Laguna, A.; Tranchant, C.; Boutte, C.; Nadaj, A.; Penisson-Besnier, I.; Bouhour, F.; Gervais, H.; Petiot, P.; Manel, V.; Gallard, J.; Salort-Campana, E.; Sole, G.; Pages, M.; Echenne, B.; Fourquet, I.; Lacour, A.; Feasson, L.; Magot, A.; Chabrol, B.; Chapon, F.; Clavelou, P.; Martinez, E.; Baez, E.; Laforet, P.; Pouget, J.; Desnuelle, C. 分享 收藏 Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler SyndromesEllinwood, N. Matthew; Ausseil, Jerome; Desmaris, Nathalie; Bigou, Stephanie; Liu, Song; Jens, Jackie K.; Snella, Elizabeth M.; Mohammed, Eman E. A.; Thomson, Christopher B.; Raoul, Sylvie; Joussemet, Beatrice; Roux, Francoise; Cherel, Yan; Lajat, Yaouen; Piraud, Monique; Benchaouir, Rachid; Hermening, Stephan; Petry, Harald; Froissart, Roseline; Tardieu, Marc; Ciron, Carine; Moullier, Philippe; Parkes, Jennifer; Kline, Karen L.; Maire, Irene; Vanier, Marie-Therese; Heard, Jean-Michel; Colle, Marie-Anne 分享 收藏 分享 收藏 Muscle Glycogenosis Due to Phosphoglucomutase 1 DeficiencyStojkovic, Tanya; Vissing, John; Petit, Francois; Piraud, Monique; Orngreen, Mette C.; Andersen, Grete; Claeys, Kristl G.; Wary, Claire; Hogrel, Jean-Yves; Laforet, Pascal 分享 收藏 Methods for a prompt and reliable laboratory diagnosis of Pompe disease:: Report from an international consensus meetingWinchester, B.; Bali, D.; Bodamer, O. A.; Caillaud, C.; Christensen, E.; Cooper, A.; Cupler, E.; Deschauer, M.; Fumic, K.; Jackson, M.; Kishnani, P.; Lacerda, L.; Ledvinova, J.; Lugowska, A.; Lukacs, Z.; Maire, I.; Mandel, H.; Mengel, E.; Muller-Felber, W.; Piraud, M.; Reuser, A.; Rupar, T.; Sinigerska, I.; Szlago, M.; Verheijen, F.; van Diggelen, O. P.; Wuyts, B.; Zakharova, E.; Keutzer, J. 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
