未登录 Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T.; Summar, Marshall L.; Chapman, Kimberly A.; Lund, Allan M.; Rizopoulos, Dimitris; Kolker, Stefan; Williams, Monique; Horster, F.; Jelsig, A. M.; de Lonlay, P.; Wijburg, F. A.; Bosch, A.; Freisinger, P.; Posset, R.; Augoustides-Savvopoulou, P.; Avram, P.; Deleanu, C.; Baumgartner, M. R.; Haeberle, J.; Blasco-Alonso, J.; Burlina, A. B.; Rubert, L.; Garcia Cazorla, A.; Saladelafont, E. Cortes, I; Dionisi-Vici, C.; Martinelli, D.; Dobbelaere, D.; Mention, K.; Grunewald, S.; Chakrapan, A.; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Karall, D.; Scholl-Buergi, S.; De Laet, C.; Matsumoto, S.; de Meirleir, L.; Schiff, M.; Pena-Qiuntana, L.; Djordjevic, M.; Sarajlija, A.; Sykut-Cegielska, J.; Wisniewska, A.; Leao-Teles, E.; Alves, S.; Vara, R.; Vives-Pinera, I; Gil-Ortega, D.; Morris, A.; Zeman, J.; Honzik, T.; Chabrol, B.; Arnaudo, F.; Cano, A.; Thompson, N.; Eyskens, F.; Lindner, M.; Lusebrink, N.; Jalan, A.; Sokal, E.; Legros, V; Nassogne, M. C.; Baric, I 分享 收藏
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Ding Wenhong; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Haeberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia 分享 收藏
Global treatment response analysis of velmanase alfa long term enzyme replacement therapy for alpha-mannosidosis shows treatment benefit across ages Harmatz, Paul; Cattaneo, Federica; Ardigo, Diego; Geraci, Silvia; Muschol, Nicole; Amraoui, Yasmina; Gil-Campos, Mercedes; Tylki-Szymanska, Anna; Wijburg, Frits; De Meirleir, Linda; Van den Hout, Johanna M. P.; Dali, Christine I.; Jones, Simon A.; Lund, Allan M.; Borgwardt, Line; Guffon, Nathalie 分享 收藏
Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial Harmatz, Paul; Cattaneo, Federica; Ardigo, Diego; Geraci, Silvia; Amraoui, Yasmina; Gil-Campos, Mercedes; De Meirleir, Linda; Muschol, Nicole; Tylki-Szymanska, Anna; Wijburg, Frits; Van den Hout, Johanna M. P.; Guffon, Nathalie; Dali, Christine I.; Jones, Simon A.; Lund, Allan M.; Borgwardt, Line 分享 收藏
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. 分享 收藏
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients Sofou, Kalliopi; de Coo, Irenaeus F. M.; Ostergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lonnqvist, Tuula; Bindoff, Laurence Albert; Tulinius, Mar; Darin, Niklas 分享 收藏
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X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid Scalais, Emmanuel; Osterheld, Elise; Weitzel, Christiane; De Meirleir, Linda; Mataigne, Frederic; Martens, Geert; Shaikh, Tamim H.; Coughlin, Curtis R., II; Yu, Hung-Chun; Swanson, Michael; Friederich, Marisa W.; Scharer, Gunter; Helbling, Daniel; Wendt-Andrae, Jamie; Van Hove, Johan L. K. 分享 收藏
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R. C.; Zaki, Maha S.; Grainger, Stephanie; Sathe, Shashank; Van Nostrand, Eric L.; Schlachetzki, Zinayida; Rosti, Basak; Akizu, Naiara; Scott, Eric; Silhavy, Jennifer L.; Heckman, Laura Dean; Rosti, Rasim Ozgur; Dikoglu, Esra; Gregor, Anne; Guemez-Gamboa, Alicia; Musaev, Damir; Mande, Rohit; Widjaja, Ari; Shaw, Tim L.; Markmiller, Sebastian; Marin-Valencia, Isaac; Davies, Justin H.; de Meirleir, Linda; Kayserili, Hulya; Altunoglu, Umut; Freckmann, Mary Louise; Warwick, Linda; Chitayat, David; Blaser, Susan; Caglayan, Ahmet Okay; Bilguvar, Kaya; Per, Huseyin; Fagerberg, Christina; Christesen, Henrik T.; Kibaek, Maria; Aldinger, Kimberly A.; Manchester, David; Matsumoto, Naomichi; Muramatsu, Kazuhiro; Saitsu, Hirotomo; Shiina, Masaaki; Ogata, Kazuhiro; Foulds, Nicola; Dobyns, William B.; Chi, Neil C.; Traver, David; Spaccini, Luigina; Bova, Stefania Maria; Gabrie, Stacey B.; Gunel, Murat; Valente, Enza Maria; Nassogne, Marie-Cecile; Bennett, Eric J.; Yeo, Gene W.; Baas, Frank; Lykke-Andersen, Jens; Gleeson, Joseph G. 分享 收藏
Improvement in fine and gross motor proficiency after long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha mannosidase) in alpha-mannosidosis patients Borgwardt, Line; Lund, Allan M.; Amraoui, Yasmine; Andersen, Oluf; De Meirleir, Linda; Dolhem, Philippe; Campos, Mercedes Gil; Guffon, Nathalie; Heron, Benedicte; Jameson, Elisabeth; Jones, Simon A.; Laroche, Cecile; Lindberg, Christoffer; Marquardt, Thorsten; Mengel, Karl-Eugene; Muschol, Nicole; Tylki-Szymanska, Anna; Van den Hout, Johanna M. P.; Van der Ploeg, Ans; Welling, Lindsey; Wijburg, Frits; Fogh, Jens; Geraci, Silvia; Ardigo, Diego; Cattaneo, Federica; Phillips, Dawn 分享 收藏
Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) slows disease progression in adult patients suffering from alpha-mannosidosis Borgwardt, Line; Lund, Allan M.; Amraoui, Yasmina; Andersen, Oluf; De Meirleird, Linda; Dolhem, Philippe; Campos, Mercedes Gil; Guffon, Nathalie; Heron, Benedicte; Laroche, Cecile; Lindberg, Christoffer; Marquardt, Thorsten; Mengel, Karl-Eugene; Muschol, Nicole; Tylki-Szymanska, Anna; Van Den Hout, Johanna M. P.; Van Der Ploeg, Ans; Welling, Lindsey; Wijburg, Frits; Cole, Duncan; Fogh, Jens; Geraci, Silvia; Ardigo, Diego; Cattaneo, Federica 分享 收藏
Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) improves mobility in alpha-mannosidosis patients Lund, Allan M.; Borgwardt, Line; Amraoui, Yasmina; Andersen, Oluf; De Meirleir, Linda; Dolhem, Philippe; Gil Campos, Mercedes; Guffon, Nathalie; Heron, Benedicte; Jameson, Elisabeth; Jones, Simon A.; Laroche, Cecile; Lindberg, Christoffer; Marquardt, Thorsten; Mengel, Karl-Eugene; Muschol, Nicole; Tylki-Szymanska, Anna; Van den Hout, Johanna M. P.; Van der Ploeg, Ans; Welling, Lindsey; Wijburg, Frits; Fogh, Jens; Geraci, Silvia; Ardigo, Diego; Cattaneo, Federica 分享 收藏
Improvement in pulmonary function and serum immunoglobulin G in long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) in alpha-mannosidosis patients Borgwardt, Line; Lund, Allan M.; De Meirleir, Linda; Amraoui, Yasmina; Andersen, Oluf; Dolhem, Philippe; Campos, Mercedes Gil; Guffon, Nathalie; Heron, Benedicte; Jameson, Elisabeth; Jones, Simon A.; Laroche, Cecile; Lindberg, Christoffer; Marquardt, Thorsten; Mengel, Karl-Eugene; Muschol, Nicole; Van den Hout, Johanna M. P.; Welling, Lindsey; Wijburg, Frits; Cole, Duncan; Van der Ploeg, Ans; Tylki-Szymanska, Anna; Fogh, Jens; Geraci, Silvia; Ardigo, Diego; Cattaneo, Federica 分享 收藏
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schuetz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Moller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nuernberg, Peter; Thiele, Holger; Kurlemann, Gerhard; Arnold, Georgianne L.; Bhambhani, Vikas; Bartholdi, Deborah; Pedurupillay, Christeen Ramane J.; Misceo, Doriana; Frengen, Eirik; Stromme, Petter; Dlugos, Dennis J.; Doherty, Emily S.; Bijlsma, Emilia K.; Ruivenkamp, Claudia A.; Hoffer, Mariette J. V.; Goldstein, Amy; Rajan, Deepa S.; Narayanan, Vinodh; Ramsey, Keri; Belnap, Newell; Schrauwen, Isabelle; Richholt, Ryan; Koeleman, Bobby P. C.; Sa, Joaquim; Mendonca, Carla; de Kovel, Carolien G. F.; Weckhuysen, Sarah; Hardies, Katia; De Jonghe, Peter; De Meirleir, Linda; Milh, Mathieu; Badens, Catherine; Lebrun, Marine; Busa, Tiffany; Francannet, Christine; Piton, Amelie; Riesch, Erik; Biskup, Saskia; Vogt, Heinrich; Dorn, Thomas; Helbig, Ingo; Michaud, Jacques L.; Laube, Bodo; Syrbe, Steffen 分享 收藏
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Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2) Vanlander, Arnaud V.; Menten, Bjoern; Smet, Joel; De Meirleir, Linda; Sante, Tom; De Paepe, Boel; Seneca, Sara; Pearce, Sarah F.; Powell, Christopher A.; Vergult, Sarah; Michotte, Alex; De Latter, Elien; Vantomme, Lies; Minczuk, Michal; Van Coster, Rudy 分享 收藏
Congenital mirror movements Mutational analysis of RAD51 and DCC in 26 cases Meneret, Aurelie; Depienne, Christel; Riant, Florence; Trouillard, Oriane; Bouteiller, Delphine; Cincotta, Massimo; Bitoun, Pierre; Wickert, Julia; Lagroua, Isabelle; Westenberger, Ana; Borgheresi, Alessandra; Doummar, Diane; Romano, Marcello; Rossi, Simone; Defebvre, Luc; De Meirleir, Linda; Espay, Alberto J.; Fiori, Simona; Klebe, Stephan; Quelin, Chloe; Rudnik-Schoeneborn, Sabine; Plessis, Ghislaine; Dale, Russell C.; Brooks, Susan Sklower; Dziezyc, Karolina; Pollak, Pierre; Golmard, Jean-Louis; Vidailhet, Marie; Brice, Alexis; Roze, Emmanuel 分享 收藏
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? Seneca, Sara; Vancampenhout, Kim; Van Coster, Rudy; Smet, Joel; Lissens, Willy; Vanlander, Arnaud; De Paepe, Boel; Jonckheere, An; Stouffs, Katrien; De Meirleir, Linda 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
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies Graciela Kalko, Susana; Paco, Sonia; Jou, Cristina; Angels Rodriguez, Maria; Meznaric, Marija; Rogac, Mihael; Jekovec-Vrhovsek, Maja; Sciacco, Monica; Moggio, Maurizio; Fagiolari, Gigliola; De Paepe, Boel; De Meirleir, Linda; Ferrer, Isidre; Roig-Quilis, Manel; Munell, Francina; Montoya, Julio; Lopez-Gallardo, Ester; Ruiz-Pesini, Eduardo; Artuch, Rafael; Montero, Raquel; Torner, Ferran; Nascimento, Andres; Ortez, Carlos; Colomer, Jaume; Jimenez-Mallebrera, Cecilia 分享 收藏
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