V. Valayannopoulos
AuthID: R-007-2YT
1
TÃTULO: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders Full Text
AUTORES: Posset, R; Garcia Cazorla, A; Valayannopoulos, V; Teles, EL; Dionisi Vici, C; Brassier, A; Burlina, AB; Burgard, P; Cortès Saladelafont, E; Dobbelaere, D; Couce, ML; Sykut Cegielska, J; Häberle, J; Lund, AM; Chakrapani, A; Schiff, M; Walter, JH; Zeman, J; Vara, R; Kölker, S; ...Mais
PUBLICAÇÃO: 2016, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, NÚMERO: 5
AUTORES: Posset, R; Garcia Cazorla, A; Valayannopoulos, V; Teles, EL; Dionisi Vici, C; Brassier, A; Burlina, AB; Burgard, P; Cortès Saladelafont, E; Dobbelaere, D; Couce, ML; Sykut Cegielska, J; Häberle, J; Lund, AM; Chakrapani, A; Schiff, M; Walter, JH; Zeman, J; Vara, R; Kölker, S; ...Mais
PUBLICAÇÃO: 2016, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, NÚMERO: 5
2
TÃTULO: Impact of age at onset and newborn screening on outcome in organic acidurias Full Text
AUTORES: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Baric; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda C I Cortes I Saladelafont; Daniela Karall; Chris Muehlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Koelker;
PUBLICAÇÃO: 2016, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, NÚMERO: 3
AUTORES: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Baric; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda C I Cortes I Saladelafont; Daniela Karall; Chris Muehlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Koelker;
PUBLICAÇÃO: 2016, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, NÚMERO: 3
INDEXADO EM: 
WOS 
CrossRef
WOS CrossRef3
TÃTULO: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
AUTORES: Kolker, S; Cazorla, AG; Valayannopoulos, V; Lund, AM; Burlina, AB; Sykut Cegielska, J; Wijburg, FA; Teles, EL; Zeman, J; Dionisi Vici, C; Baric, I; Karall, D; Augoustides Savvopoulou, P; Aksglaede, L; Arnoux, JB; Avram, P; Baumgartner, MR; Blasco Alonso, J; Chabrol, B; Chakrapani, A; ...Mais
PUBLICAÇÃO: 2015, FONTE: Journal of Inherited Metabolic Disease
AUTORES: Kolker, S; Cazorla, AG; Valayannopoulos, V; Lund, AM; Burlina, AB; Sykut Cegielska, J; Wijburg, FA; Teles, EL; Zeman, J; Dionisi Vici, C; Baric, I; Karall, D; Augoustides Savvopoulou, P; Aksglaede, L; Arnoux, JB; Avram, P; Baumgartner, MR; Blasco Alonso, J; Chabrol, B; Chakrapani, A; ...Mais
PUBLICAÇÃO: 2015, FONTE: Journal of Inherited Metabolic Disease
INDEXADO EM: 
Scopus
Scopus4
TÃTULO: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
AUTORES: Kolker, S; Valayannopoulos, V; Burlina, AB; Sykut Cegielska, J; Wijburg, FA; Teles, EL; Zeman, J; Dionisi Vici, C; Baric, I; Karall, D; Arnoux, JB; Avram, P; Baumgartner, MR; Blasco Alonso, J; Boy, SPN; Rasmussen, MB; Burgard, P; Chabrol, B; Chakrapani, A; Chapman, K; ...Mais
PUBLICAÇÃO: 2015, FONTE: Journal of Inherited Metabolic Disease
AUTORES: Kolker, S; Valayannopoulos, V; Burlina, AB; Sykut Cegielska, J; Wijburg, FA; Teles, EL; Zeman, J; Dionisi Vici, C; Baric, I; Karall, D; Arnoux, JB; Avram, P; Baumgartner, MR; Blasco Alonso, J; Boy, SPN; Rasmussen, MB; Burgard, P; Chabrol, B; Chakrapani, A; Chapman, K; ...Mais
PUBLICAÇÃO: 2015, FONTE: Journal of Inherited Metabolic Disease
INDEXADO EM: Scopus
Scopus5
TÃTULO: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
AUTORES: van de Kamp, JM; Betsalel, OT; Mercimek Mahmutoglu, S; Abulhoul, L; Gruenewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, MA; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; ...Mais
PUBLICAÇÃO: 2013, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, NÚMERO: 7
AUTORES: van de Kamp, JM; Betsalel, OT; Mercimek Mahmutoglu, S; Abulhoul, L; Gruenewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, MA; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; ...Mais
PUBLICAÇÃO: 2013, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, NÚMERO: 7
6
TÃTULO: Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database Full Text
AUTORES: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons;
PUBLICAÇÃO: 2011, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, NÚMERO: 1
AUTORES: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons;
PUBLICAÇÃO: 2011, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, NÚMERO: 1
7
TÃTULO: THE FIRST REPORT OF THE MPS VI CLINICAL SURVEILLANCE PROGRAM (CSP) Full Text
AUTORES: Hendriksz, CJ; Valayannopoulos, V; Teles, EL; Miebach, E; Harmatz, P; Pastores, GM; Steiner, R;
PUBLICAÇÃO: 2009, FONTE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, NÚMERO: 1-2
AUTORES: Hendriksz, CJ; Valayannopoulos, V; Teles, EL; Miebach, E; Harmatz, P; Pastores, GM; Steiner, R;
PUBLICAÇÃO: 2009, FONTE: 11th International Conference of Inborn Errors of Metabolism in MOLECULAR GENETICS AND METABOLISM, VOLUME: 98, NÚMERO: 1-2
INDEXADO EM: WOS
WOS