ProfileOfResearchers

TITLE: Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry Full Text
AUTHORS: Huemer, M; Diodato, D; Martinelli, D; Olivieri, G; Blom, H; Gleich, F; Kölker, S; Kožich, V; Morris, AA; Seifert, B; Froese, DS; Baumgartner, MR; Dionisi Vici, C; Martin, CA; Baethmann, M; Ballhausen, D; Blasco Alonso, J; Boy, N; Bueno, M; Burgos Peláez, R; Cerone, R; Chabrol, B; Chapman, KA; Couce, ML; Crushell, E; Dalmau Serra, J; Diogo, L; Ficicioglu, C; García Jimenez, MC; García Silva, MT; Gaspar, AM; Gautschi, M; González Lamuño, D; Gouveia, S; Grünewald, S; Hendriksz, C; Janssen, MCH; Jesina, P; Koch, J; Konstantopoulou, V; Lavigne, C; Lund, AM; Martins, EG ; Meavilla Olivas, S; Mention, K; Mochel, F; Mundy, H; Murphy, E; Paquay, S; Pedrón Giner, C; Ruiz Gómez, MA; Santra, S; Schiff, M; Schwartz, IV; Scholl Bürgi, S; Servais, A; Skouma, A; Tran, C; Vives Piñera, I; Walter, J; Weisfeld Adams, J; ...More
PUBLISHED: 2019, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 42, ISSUE: 2

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TITLE: Research activity and capability in the European reference network MetabERN Full Text
AUTHORS: Heard, JM; Bellettato, C; Lingen, C; Scarpa, M; Debray, FG; Nassogne, MC; van Coster, R; De Meirleir, L; Eyskens, F; Morava, E; Baric, I; Kozich, V; Lund, AM; Germain, D; Belmatoug, N; Guffon, N; Labrune, P; Gouya, L; De Lonlay, P; Schiff, M; Dobbelaere, D; Chabrol, B; Ploeckinger, U; Das, AM; Scarpa, M; Spiekerkoetter, U; Rutsch, F; Mohnike, K; Hahn, A; Kolker, S; Ullrich, K; Hennermann, J; Balogh, I; Bembi, B; Donati, MA; Gasperini, S; Parenti, G; Salviati, A; Vici, CD; Di Rocco, M; Cefalo, G; Burlina, A; Ceccarini, G; Federico, A; Van der Ploeg, A; Rubio Gozalbo, ME; Van Spronsen, F; Visser, G; Bosch, A; Tangeraas, T; Sanderberg, S; Kiec Wilk, B; Gaspar, AMSM; Martins, E ; Silva, EMFR; Matos, LMDFD; Azevedo, O; Tansek, MZ; Couce Pico, ML; Cazorla, AG; Azuara, LAE; Del Toro Riera, M; Silva, MTG; Lajic, S; Darin, N; Deegan, P; Vijay, S; Chronopolou, E; Jones, S; Chakrapani, A; Hiwot, T; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1

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TITLE: RFT1-CDG: Absence of epilepsy and deafness in two patients with novel pathogenic variants
AUTHORS: Quelhas, D; Jaeken, J; Fortuna, A; Azevedo, L; Bandeira, A; Matthijs, G; Martins, E ;
PUBLISHED: 2019, SOURCE: JIMD Reports, VOLUME: 43

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TITLE: Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction Full Text
AUTHORS: Celia Nogueira; Lisbeth Silva; Cristina Pereira; Luis Vieira; Elisa Leao Teles; Esmeralda Rodrigues; Teresa Campos; Patricia Janeiro; Ana Gaspar; Juliette Dupont; Anabela Bandeira; Esmeralda Martins ; Marina Magalhaes; Silvia Sequeira; Jose Pedro Vieira; Helena Santos; Silvia Vilarinho; Laura Vilarinho;
PUBLISHED: 2019, SOURCE: MITOCHONDRION, VOLUME: 47

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TITLE: The European Phenylketonuria Guidelines and the challenges on management practices in Portugal
AUTHORS: Sousa, C; Almeida, MF; Barbosa, CS; Martins, E ; Janeiro, P; de Almeida, IT; MacDonald, A; Rocha, JC ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 6

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