31
TITLE: International practices in the dietary management of fructose 1-6 biphosphatase deficiency  Full Text
AUTHORS: Pinto, A; Alfadhel, M; Akroyd, R; Atik A Altinok; Bernabei, SM; Bernstein, L; Bruni, G; Caine, G; Cameron, E; Carruthers, R; Cochrane, B; Daly, A; de Boer, F; Delaunay, S; Dianin, A; Dixon, M; Drogari, E; Dubois, S; Evans, S; Gribben, J; Gugelmo, G; Heidenborg, C; Hunjan, I; Kok, IL; Kumru, B; Liguori, A; Mayr, D; Megdad, E; Meyer, U; Oliveira, RB; Pal, A; Pozzoli, A; Pretese, R; Rocha, JC ; Rosenbaum Fabian, S; Serrano Nieto, J; Sjoqvist, E; Timmer, C; White, L; van den Hurk, T; van Rijn, M; Zweers, H; Ziadlou, M; MacDonald, A; ...More
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS
32
TITLE: The Use of Glycomacropeptide in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis  Full Text
AUTHORS: Maria Joao Pena; Alex Pinto; Anne Daly; Anita MacDonald; Luis Azevedo ; Julio Cesar Rocha ; Nuno Borges ;
PUBLISHED: 2018, SOURCE: NUTRIENTS, VOLUME: 10, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 32
33
TITLE: Treatment options and dietary supplements for patients with phenylketonuria
AUTHORS: Julio Cesar Rocha ; Anita MacDonald;
PUBLISHED: 2018, SOURCE: EXPERT OPINION ON ORPHAN DRUGS, VOLUME: 6, ISSUE: 11
INDEXED IN: Scopus WOS
34
TITLE: A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management
AUTHORS: Alex Pinto; Anita MacDonald; Esmeralda Cleto; Manuela Ferreira Almeida; Paula Cristina Ramos; Julio Cesar Rocha ;
PUBLISHED: 2017, SOURCE: TURKISH JOURNAL OF PEDIATRICS, VOLUME: 59, ISSUE: 2
INDEXED IN: Scopus WOS
35
TITLE: Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report
AUTHORS: Pinto, A; Almeida, MF; Cunha, A; Carmona, C; Rocha, S; Guimas, A; Ribeiro, R; Mota, CR; Martins, E ; MacDonald, A; Rocha, JC ;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 13
INDEXED IN: Scopus WOS CrossRef: 2
36
TITLE: Dietary practices in isovaleric acidemia: A European survey
AUTHORS: Pinto, A; Daly, A; Evans, S; Almeida, MF; Assoun, M; Belanger Quintana, A; Bernabei, S; Bollhalder, S; Cassiman, D; Champion, H; Chan, H; Dalmau, J; de Boer, F; de Laet, C; de Meyer, A; Desloovere, A; Dianin, A; Dixon, M; Dokoupil, K; Dubois, S; Eyskens, F; Faria, A; Fasan, I; Favre, E; Feillet, F; Fekete, A; Gallo, G; Gingell, C; Gribben, J; Kaalund Hansen, K; Horst, N; Jankowski, C; Janssen Regelink, R; Jones, I; Jouault, C; Kahrs, GE; Kok, IL; Kowalik, A; Laguerre, C; Le Verge, S; Lilje, R; Maddalon, C; Mayr, D; Meyer, U; Micciche, A; Robert, M; Rocha, JC ; Rogozinski, H; Rohde, C; Ross, K; Saruggia, I; Schlune, A; Singleton, K; Sjoqvist, E; Stolen, LH; Terry, A; Timmer, C; Tomlinson, L; Tooke, A; Vande Kerckhove, K; van Dam, E; van den Hurk, T; van der Ploeg, L; van Driessche, M; van Rijn, M; van Teeffelen Heithoff, A; van Wegberg, A; Vasconcelos, C; Vestergaard, H; Vitoria, I; Webster, D; White, FJ; White, L; Zweers, H; MacDonald, A; ...More
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 12
INDEXED IN: WOS
37
TITLE: Dietary practices in propionic acidemia: A European survey
AUTHORS: Daly, A; Pinto, A; Evans, S; Almeida, MF; Assoun, M; Belanger Quintana, A; Bernabei, SM; Bollhalder, S; Cassiman, D; Champion, H; Chan, H; Dalmau, J; de Boer, F; de Laet, C; de Meyer, A; Desloovere, A; Dianin, A; Dixon, M; Dokoupil, K; Dubois, S; Eyskens, F; Faria, A; Fasan, I; Favre, E; Feillet, F; Fekete, A; Gallo, G; Gingell, C; Gribben, J; Kaalund K Hansen; Ter Horst, NM; Jankowski, C; Janssen Regelink, R; Jones, I; Jouault, C; Kahrs, GE; Kok, IL; Kowalik, A; Laguerre, C; Le Verge, S; Lilje, R; Maddalon, C; Mayr, D; Meyer, U; Micciche, A; Och, U; Robert, M; Rocha, JC ; Rogozinski, H; Rohde, C; Ross, K; Saruggia, I; Schlune, A; Singleton, K; Sjoqvist, E; Skeath, R; Stolen, LH; Terry, A; Timmer, C; Tomlinson, L; Tooke, A; Vande V Kerckhove; van Dam, E; van den Hurk, T; van der Ploeg, L; van Driessche, M; van Rijn, M; van Wegberg, A; Vasconcelos, C; Vestergaard, H; Vitoria, I; Webster, D; White, FJ; White, L; Zweers, H; MacDonald, A; ...More
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 13
INDEXED IN: Scopus WOS
38
TITLE: Dietary intervention in the management of phenylketonuria: current perspectives
AUTHORS: Julio Cesar Rocha ; Anita MacDonald;
PUBLISHED: 2016, SOURCE: PEDIATRIC HEALTH MEDICINE AND THERAPEUTICS, VOLUME: 7
INDEXED IN: WOS
39
TITLE: Protein substitutes for phenylketonuria in Europe: access and nutritional composition
AUTHORS: Pena, MJ; de Almeida, MF; van Dam, E; Ahring, K; Belanger Quintana, A; Dokoupil, K; Gokmen Ozel, H; Lammardo, AM; MacDonald, A; Robert, M; Rocha, JC ;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF CLINICAL NUTRITION, VOLUME: 70, ISSUE: 7
INDEXED IN: WOS CrossRef: 30
IN MY: ORCID
40
TITLE: Weight Management in Phenylketonuria: What Should Be Monitored?
AUTHORS: Julio Cesar Rocha ; Margreet van Rijn; Esther van Dam; Kirsten Ahring; Amaya Belanger Quintana; Katharina Dokoupil; Hulya Gokmen Ozel; Anna Maria Lammardo; Martine Robert; Carina Heidenborg; Anita MacDonald;
PUBLISHED: 2016, SOURCE: ANNALS OF NUTRITION AND METABOLISM, VOLUME: 68, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 29
IN MY: ORCID
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