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by Fontsere, N and Mestres, G and Burrel, M and Barrufet, M and Montana, X and Arias, M and Ojeda, R and Maduell, F and Campistol, J. M and Nagaraja, P and Rees, D and Husein, T and Chess, J and Lin, C.-C and Yang, W.-C and Khosravi, M and Kandil, H and Cross, J and Hopkins, S and Collier, S and Lopes, D and Pereira, S and Gomes, A. M and Ventura, A and Martins, V and Seabra, J and Rothuizen, T. C and Damanik, F and Visser, M. J. T and Lavrijsen, T and Cox, M. A. J and Moroni, L and Rabelink, T. J and Rotmans, J. I and Cardozo, C and Donate, J and Soriano, A and Muros, M and Pons, M and Mensa, J and Navarro-Gonzalez, J. F and Wijewardane, A and Murley, A and Powers, S and Allen, C and Baharani, J and Wilmink, T and Esenturk, M and Zengin, M and Dal, M and Tahtal , N and Shibata, K and Shinzato, T and Satta, H and Nishihara, M and Koguchi, N and Kuji, T and Kawata, S and Kaneda, T and Yasuda, G and Scrivano, J and Pettorini, L and Rutigliano, T and Ciavarella, G. M and De Biase, L and Punzo, G and Mene, P and Pirozzi, N and El Haggan, W and Belazrague, K and Ehoussou, S and Foucher, V and El Salhy, M and Ouellet, G and Davis, J and Caron, P and Leblanc, M and Romitelli, F and Fazzari, L and Ortu, G and Di Stasio, E and Loizzo, G and Vigano, S. M and Bacchini, G and Rocchi, E and Sala, V and Pontoriero, G and Letachowicz, K and Go  biowski, T and Kusztal, M and Letachowicz, W and Weyde, W and Klinger, M and Hollingsworth, L and Roca-Tey, R and Samon, R and Ibrik, O and Roda, A and Gonzalez-Oliva, J. C and Martinez-Cercos, R and ...
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2014, Volume 29, Issue suppl 3, pp. iii246 - iii262
Journal Article
by Heinzen, Erin L and Swoboda, Kathryn J and Hitomi, Yuki and Gurrieri, Fiorella and De Vries, Boukje and Tiziano, F. Danilo and Fontaine, Bertrand and Walley, Nicole M and Heavin, Sinéad and Panagiotakaki, Eleni and Fiori, Stefania and Abiusi, Emanuela and Di Pietro, Lorena and Sweney, Matthew T and Newcomb, Tara M and Viollet, Louis and Huff, Chad and Jorde, Lynn B and Reyna, Sandra P and Murphy, Kelley J and Shianna, Kevin V and Gumbs, Curtis E and Little, Latasha and Silver, Kenneth and Ptáček, Louis J and Haan, Joost and Ferrari, Michel D and Bye, Ann M and Herkes, Geoffrey K and Whitelaw, Charlotte M and Webb, David and Lynch, Bryan J and Uldall, Peter and King, Mary D and Scheffer, Ingrid E and Neri, Giovanni and Arzimanoglou, Alexis and Van Den Maagdenberg, Arn M.J.M and Sisodiya, Sanjay M and Mikati, Mohamad A and Goldstein, David B and Koelewijn, Stephany and Kamphorst, Jessica and Geilenkirchen, Marije and Pelzer, Nadine and Ferrari, Michel and Van Den Maagdenberg, Arn and Zucca, Claudio and Franchini, Filippo and Vavassori, Rosaria and Giannotta, Melania and Gobbi, Giuseppe and Granata, Tiziana and Nardocci, Nardo and De Grandis, Elisa and Veneselli, Edvige and Stagnaro, Michela and Vigevano, Federico and Oechsler, Claudia and Nicole, Sophie and Ninan, Miriam and Neville, Brian and Ebinger, Friedrich and Fons, Carmen and Campistol, Jaume and Kemlink, David and Nevsimalova, Sona and Laan, Laura and Peeters-Scholte, Cacha and Casaer, Paul and Casari, Giorgio and Sange, Guenter and Spiel, Georg and Boneschi, Filippo Martinelli and Bassi, Maria Teresa and Schyns, Tsveta and Crawley, Francis and Poncelin, Dominique and European Alternating Hemiplegia and European Network Res Alternating and Biobanca Registro Clinico and European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium and European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium and Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1030 - 1034
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, p. 162
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that... 
Phenylketonurias - therapy | Phenylketonurias - diagnosis | Europe | Humans | Practice Guidelines as Topic
Journal Article
by Hecking, M and Kainz, A and Bielesz, B and Plischke, M and Beilhack, G and Hoerl, W. H and Sunder-Plassmann, G and Bieglmayer, C and Benchetrit, S and Green, J and Bernheim, J and Golan, E and Oyake, N and Suzuki, K and Itoh, S and Tanabe, K and Fujimori, A and Okada, S and Yamamoto, K and Sakai, M and Kamiura, N and Solenne, P and Guebre-Egziabher, F and Bacchetta, J and Drai, J and Richard, M and Chapurlat, R and Fouque, D and Nowak, Z and Grzegorz, K and Maria, K and Zofia, W and Zamboch, K and Zahalkova, J and Kosatikova, Z and Skypalova, P and Skarda, J and Cunha, J and Boim, M and Ferreira, V and Naves, M and Kikuchi, H and Shimada, H and Takimoto, Y and Karasawa, R and Shimotori, M and Ikarashi, K and Saito, N and Miyazaki, S and Sakai, S and Suzuki, M and Ogata, H and Takeshima, A and Yamamoto, M and Asakura, K and Kato, T and Shishido, K and Koiwa, F and Mizobuchi, M and Kinugasa, E and Akizawa, T and Londrino, F and Corbani, V and Ardini, M and Falqui, V and Zattera, T and Rombola', G and Takeshige, Y and Matsuzaka, K and Ciceri, P and Volpi, E and Brenna, I and Elli, F and Borghi, E and Brancaccio, D and Cozzolino, M and Farrand, K and Copley, J. B and Heise, J and Fridman, M and Keith, M and Silverberg, A and Wilson, R and Poole, L and Jean, G and Bresson, E and Chazot, C and Maduell, F and Arias, M and Sentis, A and Rodriguez, N and Jimenez, S and Alemany, B and Perez, N and Vera, M and Fontsere, N and Carrera, M and Cases, A and Sonikian, M and Miha, T and ...
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2012, Volume 27, Issue suppl 2, pp. ii492 - ii510
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2018, Volume 379, Issue 1, pp. 11 - 21
Journal Article
by Bonani, M and Brockmann, J and Cohen, C. D and Fehr, T and Nocito, A and Schiesser, M and Serra, A. L and Blum, M and Struker, M and Frey, D. F and Wuthrich, R. P and Kim, Y. W and Park, S. J and Kim, T. H and Kim, Y.-H and Kang, S. W and Webb, L and Casula, A and Tomson, C and Ben-Shlomo, Y and Mansour, H and Akl, A and Wafa, E and El Shahawy, M and Palma, R and Swaminathan, S and Irish, A. B and Kolonko, A and Chudek, J and Wiecek, A and Vanrenterghem, Y and Kuypers, D and Katrien, D. V and Evenepoel, P and Claes, K and Bammens, B and Meijers, B and Naesens, M and Lo, S and Chan, C.-K and Yong, D and Wong, P.-N and Kwan, T.-H and Cheng, Y.-L and Fung, K.-S and Choy, B.-Y and Chau, K.-F and Leung, C.-B and Ebben, J and Liu, J and Chen, S.-C and Collins, A and Ho, Y.-W and Abelli, M and Ferrario DI Torvajana, A and Ticozzelli, E and Maiga, B and Patane, A and Albrizio, P and Gregorini, M and Libetta, C and Rampino, T and Geraci, P and Dal Canton, A and Rotter, M.-T and Jacobi, J and Pressmar, K and Amann, K and Eckardt, K.-U and Weidemann, A and Muller, K and Stein, M and Diezemann, C and Sefrin, A and Babel, N and Reinke, P and Schachtner, T and Costa, C and Touscoz, G. A and Sidoti, F and Sinesi, F and Mantovani, S and Simeone, S and Balloco, C and Piasentin Alessio, E and Messina, M and Segoloni, G and Cavallo, R and Sharma, R. .K and Kaul, D. A and Gupta, R. K and Gupta, A and Prasad, N and Bhadhuria, D and Suresh, K. J and Benaboud, S and Prie, D and Thervet, E and Urien, S and Legendre, C and ...
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2012, Volume 27, Issue suppl 2, pp. ii304 - ii316
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2018, Volume 379, Issue 1, pp. 22 - 31
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2013, Volume 50, Issue 7, pp. 463 - 472
Journal Article
by Legendre, C and Cohen, D and Delmas, Y and Feldkamp, T and Fouque, D and Furman, R and Gaber, O and Greenbaum, L and Goodship, T and Haller, H and Herthelius, M and Hourmant, M and Licht, C and Moulin, B and Sheerin, N and Trivelli, A and Bedrosian, C. L and Loirat, C and Babu, S and Jungraithmayr, T and Lebranchu, Y and Riedl, M and Gaber, A. O and Bedrosian, C and Muus, P and Douglas, K and Remuzzi, G and Kourouklaris, A and Ioannou, K and Athanasiou, I and Demetriou, K and Panagidou, A and Zavros, M and Rodriguez C, N. Y and Blasco, M and Arcal, C and Quintana, L. F and Rodriguez de Cordoba, S and Campistol, J. M and Bachmann, N and Eisenberger, T and Decker, C and Bolz, H. J and Bergmann, C and Pesce, F and Cox, S. N and Serino, G and De Palma, G and Sallustio, F. P and Schena, F and Falchi, M and Pieri, M and Stefanou, C and Zaravinos, A and Erguler, K and Lapathitis, G and Dweep, H and Sticht, C and Anastasiadou, N and Zouvani, I and Voskarides, K and Gretz, N and Deltas, C. C and Ruiz, A and Bonny, O and Sallustio, F and Curci, C and Cox, S and Kemter, E and Sklenak, S and Aigner, B and Wanke, R and Kitzler, T. M and Moskowitz, J. L and Piret, S. E and Lhotta, K and Tashman, A and Velez, E and Thakker, R. V and Kotanko, P and Leierer, J and Rudnicki, M and Perco, P and Koppelstaetter, C and Mayer, G and Sa, M. J. N and Alves, S and Storey, H and Flinter, F and Willems, P. J and Carvalho, F and Oliveira, J and Arsali, M and Papazachariou, L and Demosthenous, P and Lazarou, A and Hadjigavriel, M and Stavrou, C and Yioukkas, L and Deltas, C and ...
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2013, Volume 28, Issue suppl 1, pp. i309 - i321
Journal Article
by Nubé, Menso J and Peters, Sanne A E and Blankestijn, Peter J and Canaud, Bernard and Davenport, Anew and Grooteman, Muriel P C and Asci, Gulay and Locatelli, Francesco and Maduell, Francisco and Morena, Marion and Ok, Ercan and Torres, Ferran and Bots, Michiel L and Moreso, Francesc and Pons, Mercedes and Ramos, Rosa and Mora-Macià, Josep and Carreras, Jordi and Soler, Jordi and Campistol, Josep M and Martinez-Castelao, Alberto and Insensé, B and Perez, C and Feliz, T and Barbetta, M and Soto, C and Mora, J and Juan, A and Ibrik, O and Foraster, A and Nin, J and Fernández, A and Arruche, M and Sánchez, C and Vidiella, J and Barbosa, F and Chiné, M and Hurtado, S and Llibre, J and Ruiz, A and Serra, M and Salvó, M and Poyuelo, T and Maduell, F and Carrera, M and Fontseré, N and Arias, M and Merín, A and Ribera, L and Galceran, J. M and Mòdol, J and Moliner, E and Ramirez, A and Aguilera, J and Alvarez, M and De La Torre, B and Molera, M and Casellas, J and Martín, G and Anes, E and Coll, E and Valles, M and Martínez, C and Castellote, E and Casals, J. M and Gabàs, J and Romero, M and Martinez-Castelao, A and Fulladosa, X and Ramirez-Arellano, M and Fulquet, M and Pelegrí, A and El Manouari, M and Ramos, N and Bartolomé, J and Sans, R and Fernández, E and Sarró, F and Compte, T and Marco, F and Mauri, R and Bronsoms, J and Arnaiz, J. A and Beleta, H and Pejenaute, A and Ríos, J and Lara, J and Ter Wee, P. M and Van Den Dorpel, M. A and Dorval, M and Lévesque, R and Koopman, M. G and Konings, C. J A M and Haanstra, W. P and Kooistra, M and Van Jaarsveld, B and Noordzij, T and Feith, G. W and Peltenburg, H. G and Van Buren, M and ... and HDF Pooling Project Investigators and HDF Pooling Project investigators and on behalf of the HDF Pooling Project investigators
Nephrology Dialysis Transplantation, ISSN 0931-0509, 03/2017, Volume 32, Issue 3, pp. 548 - 555
Journal Article
by Riegersperger, M and Plischke, M and Steiner-Boker, S and Seidinger, D and Winkelmayer, W and Sunder-Plassmann, G and Vlahovic, P and Cvetkovic, T and Djordjevic, V and Velickovic-Radovanovic, R and Stefanovic, N and Ignjatovic, A and Sladojevic, N and Cademartori, V and Massarino, F and Parodi, E. L and Russo, R and Sofia, A and Fontana, I and Viviani, G. L and Garibotto, G and Mai, M and Mai, W and Taner, B and Wadei, H and Prendergast, M and Gonwa, T and Martin, J and Aurore, S and Aline, C. S and Nicolas, M and Manolie, M and Catherine, S and Eric, A and Christophe, M and Brakemeier, S and Liefeldt, L and Glander, P and Waiser, J and Lachmann, N and Schonemann, C and Zukunft, B and Illigens, P and Schmidt, D and Wu, K and Rudolph, B and Neumayer, H.-H and Budde, K and Pallardo Mateu, L and Gavela Martinez, E and Sancho Calabuig, A and Crespo Albiach, J and Beltran Catalan, S and Kanter Berga, J and Kimura, T and Yagisawa, T and Ishikawa, N and Sakuma, Y and Hujiwara, T and Nukui, A and Yashi, M and Duraes, J and Malheiro, J and Fonseca, I and Rocha, A and Martins, L. S and Almeida, M and Dias, L and Castro-Henriques, A and Cabrita, A and Volpe, A and Quaglia, M and Menegotto, A and Fenoglio, R and Izzo, C and Airoldi, A and Terrone, C and Stratta, P and Ahmed, B and Mireille, K and Nilufer, B and Annick, M and Karl Martin, W and Anh-Dung, H and Dimitri, M and Philippe, M and Judith, R and Daniel, A and Lan, Y and Heine, C and Capone, V and Grace, B and Clayton, P and Cass, A and Mcdonald, S and Fujiwara, T and Iwabuchi, T and Muraishi, O and Torregrosa, V and Barros, X and ...
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2012, Volume 27, Issue suppl 2, pp. ii525 - ii536
Journal Article
by Xiol, C and Vidal, S and Pascual-Alonso, A and Blasco, L and Brandi, N and Pacheco, P and Gerotina, E and O'Callaghan, M and Pineda, M and Armstrong, J and Aguirre, FJ and Aleu, M and Alonso, X and Alsius, M and Amoros, M and Antinolo, G and Aquino, L and Arellano, C and Arriola, G and Arteaga, R and Baena, N and Barcos, M and Belzunces, N and Boronat, S and Camacho, T and Campistol, J and del Campo, M and Campo, A and Cancho, R and Candau, R and Canos, I and Carrascosa, MD and Carratala-Marco, F and Casano, J and Castro, P and Cobo, A and Colomer, J and Conejo, D and Corrales, MJ and Cortes, R and Cruz, G and Csanyi, G and de Santos, MT and de Toledo, M and Del Campo, M and Del Toro, M and Domingo, R and Duat, A and Duque, R and Esparza, AM and Fernandez, R and Fons, MC and Fontalba, A and Galan, E and Gallano, P and Gamundi, MJ and Garcia, PL and Garcia, MD and Garcia-Barcina, M and Garcia-Catalan, MJ and Garcia-Cazorla, A and Garcia-Minaur, S and Garcia-Penas, JJ and Garcia-Silva, MT and Gassio, R and Gean, E and Gil, B and Gokben, S and Gonzalez, L and Gonzalez, V and Gonzalez, J and Gonzalez, G and Guillen, E and Guitart, M and Guitet, M and Gutierrez, JM and Gutierrez, E and Herranz, JL and Iglesias, G and Karacic, I and Lahoz, CH and Lao, JI and Lapunzina, P and Lautre-Ecenarro, MJ and Lluch, MD and Lopez, L and Lopez-Ariztegui, A and Macaya, A and Marin, R and Marquez, CML and Martin, E and Martinez, B and Martinez-Salcedo, E and Mas, MJ and Mateo, G and Mendez, P and Jimenez, AM and Moreno, S and Mulas, F and Narbona, J and ... and Rett Working Grp and Rett Working Group
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 11983 - 9
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X... 
MECP2 MUTATIONS | PATTERNS | METHYLATION | GENE | MULTIDISCIPLINARY SCIENCES | BRAIN | Phenotypes | Transcription | Phenotypic variations | Blood | Neurological diseases | Methyl-CpG binding protein | MeCP2 protein | X Chromosomes | Rett syndrome | Alleles | Mutation | Methylation | Chromosomes
Journal Article
by Kohlova, M and Ribeiro, S and do Sameiro-Faria, M and Rocha-Pereira, P and Fernandes, J and Reis, F and Miranda, V and Quintanilha, A and Bronze-da-Rocha, E and Belo, L and Costa, E and Santos-Silva, A and Arias-Guillen, M and Maduell, F and Masso, E and Fontsere, N and Carrera, M and Ojeda, R and Vera, M and Cases, A and Campistol, J and Di Benedetto, A and Ciotola, A and Stuard, S and Marcelli, D and Canaud, B and Kim, M.-J and Lee, S. W and Kweon, S. H and Song, J. H and Rosales, L. M and Abbas, S and Zhu, F and Flores, C and Carter, M and Apruzzese, R and Kotanko, P and Levin, N. W and Mann, H and Seyffart, G and Ensminger, A and Goksel, T and Stiller, S and Zaluska, W and Kotlinska-Hasiec, E and Rzecki, Z and Rybojad, B and Zaluska, A and Da'browski, W and Ponce, P and Chung, T and Kreuzberg, U and Pedrini, L and Francois, K and Wissing, K. M and Jacobs, R and Boone, D and Jacobs, K and Tielemans, C and Agar, B. U and Culleton, B. F and Fluck, R and Leypoldt, J. K and Lentini, P and Zanoli, L and Granata, A and Contestabile, A and Basso, A and Berlingo, G and Pellanda, V and de Cal, M and Clementi, A and Insalaco, M and Dell'Aquila, R and Panichi, V and Rosati, A and Casani, A and Conti, P and Capitanini, A and Migliori, M and Scatena, A and Giusti, R and Malagnino, E and Betti, G and Bernabini, G and Gabbrielli, C and Rollo, S and Caiani, D and Pizzarelli, F and Cantaluppi, V and Medica, D and Quercia, A. D and Gai, M and Leonardi, G and Anania, P and Guarena, C and Giovinazzo, G and Ferraresi, M and Merlo, I and Deambrosis, I and ... and on behalf of NephroCare Study Group on HDF
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2013, Volume 28, Issue suppl 1, pp. i415 - i427
Journal Article