11
TITLE: Tyrosinemia type III: a case report of siblings and literature review  Full Text
AUTHORS: Barroso, F; Correia, J; Bandeira, A; Carmona, C; Vilarinho, L; Almeida, M; Rocha, JC ; Martins, E ;
PUBLISHED: 2020, SOURCE: REVISTA PAULISTA DE PEDIATRIA, VOLUME: 38
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID
12
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
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
13
TITLE: A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment
AUTHORS: Rocha, JC ; van Dam, E; Ahring, K; Almeida, MF; Belanger Quintana, A; Dokoupil, K; Gokmen Ozel, H; Robert, M; Heidenborg, C; Harbage, E; MacDonald, A;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
14
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
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
15
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
INDEXED IN: Scopus CrossRef Handle
IN MY: ORCID
16
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
IN MY: ORCID
17
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: Scopus WOS CrossRef: 10
IN MY: ORCID
18
TITLE: A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management
AUTHORS: Pinto, A; MacDonald, A; Cleto, E; Almeida, MF; Ramos, PC; Rocha, JC ;
PUBLISHED: 2017, SOURCE: TURKISH JOURNAL OF PEDIATRICS, VOLUME: 59, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
19
TITLE: Infantile refsum disease: Influence of dietary treatment on plasma phytanic acid levels
AUTHORS: Sá, MJN; Rocha, JC; Almeida, MF; Carmona, C; Martins, E ; Miranda, V; Coutinho, M; Ferreira, R; Pacheco, S; Laranjeira, F ; Ribeiro, I; Fortuna, AM; Lacerda, L;
PUBLISHED: 2016, SOURCE: JIMD Reports, VOLUME: 26
INDEXED IN: Scopus CrossRef: 2
IN MY: ORCID
20
TITLE: The challenges of managing coexistent disorders with phenylketonuria: 30 cases
AUTHORS: MacDonald, A; Ahring, K; Almeida, MF; Belanger Quintana, A; Blau, N; Burlina, A; Cleary, M; Coskum, T; Dokoupil, K; Evans, S; Feillet, F; Gizewska, M; Ozel, HG; Lotz Havla, AS; Kamienska, E; Maillot, F; Lammardo, AM; Muntau, AC; Puchwein Schwepcke, A; Robert, M; Rocha, JC ; Santra, S; Skeath, R; Straczek, K; Trefz, FK; van Dam, E; van Rijn, M; van Spronsen, F; Vijay, S; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 116, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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