ProfileOfResearchers

Identified 29

TITLE: Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
AUTHORS: Evers, RAF; van Wegberg, AMJ; Ahring, K; Beblo, S; Belanger Quintana, A; Bosch, AM; Burlina, A; Campistol, J; Coskun, T; Feillet, F; Gizewska, M; Huijbregts, SCJ; Kearney, S; Langeveld, M; Leuzzi, V; Maillot, F; Muntau, AC; Rocha, JC; Romani, C; Trefz, FK; MacDonald, A; van Spronsen, FJ; ...More
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 132, ISSUE: 4

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TITLE: Unveiling the Metabolic Effects of Glycomacropeptide Full Text
AUTHORS: Pena, MJ; Costa, R; Rodrigues, I; Martins, Sandra ; Guimaraes, JT ; Faria, A; Calhau, C; Rocha, JC; Borges, N ;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 18

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TITLE: Special Low Protein Foods Prescribed in England for PKU Patients: An Analysis of Prescribing Patterns and Cost
AUTHORS: Wood, G; Pinto, A; Evans, S; Daly, A; Adams, S; Costelloe, S; Gribben, J; Ellerton, C; Emm, A; Firman, S; Ford, S; French, M; Gaff, L; Giuliano, E; Hill, M; Hunjan, I; Newby, C; Mackenzie, A; Pereira, R; Prescott, C; Robertson, L; Seabert, H; Skeath, R; Tapley, S; Terry, A; Tooke, A; van Wyk, K; White, FJ; White, L; Woodall, A; Rocha, JC; MacDonald, A; ...More
PUBLISHED: 2021, SOURCE: NUTRIENTS, VOLUME: 13, ISSUE: 11

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TITLE: Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective
AUTHORS: Bernstein, L; Hansen, J; Kogelmann, C; Ellerbrok, M; Gizewska, M; Gaughan, S; Rocha, JC; Belanger, A; Rohr, F;
PUBLISHED: 2021, SOURCE: NUTRITION AND DIETARY SUPPLEMENTS, VOLUME: 13

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TITLE: Weaning practices in phenylketonuria vary between health professionals in Europe
AUTHORS: Pinto, A; Adams, S; Ahring, K; Allen, H; Almeida, MF; Garcia Arenas, D; Arslan, N; Assoun, M; Altinok, YA; Barrio Carreras, D; Quintana, AB; Bernabei, SM; Bontemps, C; Boyle, F; Bruni, G; Bueno Delgado, M; Caine, G; Carvalho, R; Chrobot, A; Chyz, K; Cochrane, B; Correia, C; Corthouts, K; Daly, A; De Leo, S; Desloovere, A; De Meyer, A; De Theux, A; Didycz, B; Dijsselhof, ME; Dokoupil, K; Drabik, J; Dunlop, C; Eberle Pelloth, W; Eftring, K; Ekengrena, J; Errekalde, I; Evans, S; Foucart, A; Fokkema, L; Francois, L; French, M; Forssell, E; Gingell, C; Goncalves, C; Ozel, HG; Grimsley, A; Gugelmo, G; Gyure, E; Heller, C; Hensler, R; Jardim, I; Joost, C; Joerg Streller, M; Jouault, C; Jung, A; Kanthe, M; Koc, N; Kok, IL; Kozanoglu, T; Kumru, B; Lang, F; Lang, K; Liegeois, I; Liguori, A; Lilje, R; Lubina, O; Manta Vogli, P; Mayr, D; Meneses, C; Newby, C; Meyer, U; Mexia, S; Nicol, C; Och, U; Olivas, SM; Pedron Giner, C; Pereira, R; Plutowska Hoffmann, K; Purves, J; Dionigi, AR; Reinson, K; Robert, M; Robertson, L; Rocha, JC; Rohde, C; Rosenbaum Fabian, S; Rossi, A; Ruiz, M; Saligova, J; Gutierrez Sanchez, A; Schlune, A; Schulpis, K; Serrano Nieto, J; Skarpalezou, A; Skeath, R; Slabbert, A; Straczek, K; Gizewska, M; Terry, A; Thom, R; Tooke, A; Tuokkola, J; van Dam, E; van den Hurk, TAM; van der Ploegcn, EMC; Kerckhove, KV; Van Driessche, M; van Wegberg, AMJ; van Wyk, K; Vasconcelos, C; Garcia, VV; Wildgoose, J; Winkler, T; Zolkowska, J; Zuvadelli, J; MacDonald, A; ...More
PUBLISHED: 2019, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 18

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TITLE: Early feeding practices in infants with phenylketonuria across Europe
AUTHORS: Pinto, A; Adams, S; Ahring, K; Allen, H; Almeida, MF; Garcia Arenas, D; Arslan, N; Assoun, M; Altinok, YA; Barrio Carreras, D; Quintana, AB; Bernabei, SM; Bontemps, C; Boyle, F; Bruni, G; Bueno Delgado, M; Caine, G; Carvalho, R; Chrobot, A; Chyz, K; Cochrane, B; Correia, C; Corthouts, K; Daly, A; De Leo, S; Desloovere, A; De Meyer, A; De Theux, A; Didycz, B; Dijsselhof, ME; Dokoupil, K; Drabik, J; Dunlop, C; Eberle Pelloth, W; Eftring, K; Ekengren, J; Errekalde, I; Evans, S; Foucart, A; Fokkema, L; Francois, L; French, M; Forssell, E; Gingell, C; Goncalves, C; Ozel, HG; Grimsley, A; Gugelmo, G; Gyure, E; Heller, C; Hensler, R; Jardim, I; Joost, C; Jorg Streller, M; Jouault, C; Jung, A; Kanthe, M; Koc, N; Kok, IL; Kozanoglu, T; Kumru, B; Lang, F; Lang, K; Liegeois, I; Liguori, A; Lilje, R; Lubina, O; Manta Vogli, P; Mayr, D; Meneses, C; Newby, C; Meyer, U; Mexia, S; Nicol, C; Och, U; Olivas, SM; Pedron Giner, C; Pereira, R; Plutowska Hoffmann, K; Purves, J; Dionigi, AR; Reinson, K; Robert, M; Robertson, L; Rocha, JC; Rohde, C; Rosenbaum Fabian, S; Rossi, A; Ruiz, M; Saligova, J; Gutierrez Sanchez, A; Schlune, A; Schulpis, K; Serrano Nieto, J; Skarpalezou, A; Skeath, R; Slabbert, A; Straczek, K; Gizewska, M; Terry, A; Thom, R; Tooke, A; Tuokkola, J; van Dam, E; van den Hurk, TAM; van der Ploeg, EMC; Vande Kerckhove, K; Van Driessche, M; van Wegberg, AMJ; van Wyk, K; Vasconcelos, C; Garcia, VV; Wildgoose, J; Winkler, T; Zolkowska, J; Zuvadelli, J; MacDonald, A; ...More
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 16

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TITLE: Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test
AUTHORS: Catarina Sousa Barbosa; Manuela F Almeida; Cátia Sousa; Sara Rocha; Arlindo Guimas; Rosa Ribeiro; Esmeralda Martins ; Anabela Bandeira; Bruno M P M Oliveira ; Nuno Borges ; Anita MacDonald; Júlio C Rocha;
PUBLISHED: 2018, SOURCE: Journal of Inborn Errors of Metabolism and Screening, VOLUME: 6

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