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1 |
Material Type: Capítulo de Livro
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Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of ShortageLinthorst, Gabor E. ; Burlina, Alessandro P. ; Cecchi, Franco ; Cox, Timothy M. ; Fletcher, Janice M. ; Feldt-Rasmussen, Ulla ; Giugliani, Roberto ; Hollak, Carla E. M. ; Houge, Gunnar ; Hughes, Derralynn ; Kantola, Iikka ; Lachmann, Robin ; Lopez, Monica ; Ortiz, Alberto ; Parini, Rossella ; Rivera, Alberto ; Rolfs, Arndt ; Ramaswami, Uma ; Svarstad, Einar ; Tondel, Camilla ; Tylki-Szymanska, Anna ; Vujkovac, Bojan ; Waldek, Steven ; West, Michael ; Weidemann, F. ; Mehta, Atul Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, GarryJIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.51-56 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsNg, Bobby G. ; Underhill, Hunter R. ; Palm, Lars ; Bengtson, Per ; Rozet, Jean-Michel ; Gerber, Sylvie ; Munnich, Arnold ; Zanlonghi, Xavier ; Stevens, Cathy A. ; Kircher, Martin ; Nickerson, Deborah A. ; Buckingham, Kati J. ; Josephson, Kevin D. ; Shendure, Jay ; Bamshad, Michael J. ; Freeze, Hudson H. ; Eklund, Erik A. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, 2019, Vol.44, p.85-92 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic CystinosisSoliman, Neveen A. ; Elmonem, Mohamed A. ; van den Heuvel, Lambertus ; Abdel Hamid, Rehab H. ; Gamal, Mohamed ; Bongaers, Inge ; Marie, Sandrine ; Levtchenko, Elena Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, EvaJIMD Reports, Volume 14, 2014, Vol.14, p.87-97 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease FibroblastsFerreira, Natalia Santos ; Goldschmidt-Arzi, Michal ; Sabanay, Helena ; Storch, Judith ; Levade, Thierry ; Ribeiro, Maria Gil ; Addadi, Lia ; Futerman, Anthony H. Peters, Verena ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry ; Morava, EvaJIMD Reports - Volume 12, 2014, Vol.12, p.71-77 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
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Material Type: Capítulo de Livro
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Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase DeficiencyOstergaard, Elsebet ; Duno, Morten ; Møller, Lisbeth Birk ; Kalkanoglu-Sivri, H. Serap ; Dursun, Ali ; Aliefendioglu, Didem ; Leth, Helle ; Dahl, Marianne ; Christensen, Ernst ; Wibrand, Flemming Morava, Eva ; Peters, Verena ; Zschocke, Johannes ; Gibson, K. Michael ; Brown, GarryJIMD Reports – Case and Research Reports, 2012/6, 2013, Vol.9, p.1-5 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Hydrologic responses to earthquakes and a general metricWANG, CHI-YUEN ; MANGA, MICHAEL Manning, Craig ; Yardley, Bruce ; Garven, GrantFrontiers in Geofluids, 2011, Vol.10 (1-2), p.206-216 [Periódico revisado por pares]United Kingdom: Oxford, UK : Blackwell Publishing LtdTexto completo disponível |
7 |
Material Type: Capítulo de Livro
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Great Holocene floods along Jökulsá á Fjöllum, north IcelandWaitt, R. B Martini, I. Peter ; Baker, Victor R ; Garzón, Guillermina ; Garzón, Guillermina ; Baker, Victor R ; Martini, I. PeterFlood and Megaflood Processes and Deposits, 2002, Vol.17, p.37-51 [Periódico revisado por pares]United Kingdom: John Wiley & Sons, IncorporatedTexto completo disponível |
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Material Type: Capítulo de Livro
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Permeability of the continental crust: dynamic variations inferred from seismicity and metamorphismINGEBRITSEN, S.E ; MANNING, C.E Manning, Craig ; Yardley, Bruce ; Garven, GrantFrontiers in Geofluids, 2010, Vol.10 (1-2), p.193-205 [Periódico revisado por pares]United Kingdom: Oxford, UK : Blackwell Publishing LtdTexto completo disponível |