Dietary practices in methylmalonic acidaemia: a European survey

Autor: Rachel Skeath, Annemiek M. J. van Wegberg, Kit Kaalund Hansen, Isidro Vitoria, Sandrine Dubois, Júlio César Rocha, Helle Vestergaard, Alice Dianin, François Feillet, Giorgia Gallo, Karen Corthouts, Sandrine Le Verge, Camille Jankowski, Anita MacDonald, Kathleen Ross, Irene Kok, Sandra Bollhalder, Linn Helene Stolen, Heidi Chan, F.J. White, Agnieszka Kowalik, Alison Tooke, David Cassiman, Foekje de Boer, Amaya Belanger-Quintana, Ana Faria, Hazel Rogozinski, Lucy White, Marleen van Driessche, Alex Pinto, Heidi Zweers, M.F. Almeida, R. Lilje, Gudrun Elise Kahrs, Margreet van Rijn, Carla Vasconcelos, C. Timmer, Lyndsey Tomlinson, Cornelia Maddalon, A. Terry, Kristel Vande Kerckhove, Esther van Dam, Ilana Jones, Elisabeth Sjoqvist, U. Meyer, Liesbeth van der Ploeg, Ulrike Och, Marjorie Dixon, Ilaria Fasan, Diana Webster, Dorine T.A.M. van den Hurk, Joanna Gribben, Helena Champion, Catherine Jouault, Kath Singleton, Katharina Dokoupil, Anne Daly, Jaime Dalmau, Elisabeth Favre, Doris Mayr, Silvia Maria Bernabei, An de Meyer, François Eyskens, A. Liguori, Catherine Laguerre, Nienke Ter Horst, Carmen Rohde, Sharon Evans, An Desloovere, Corinne De Laet, Andrea Schlune, Martine Robert, M. Assoun, Anna Fekete, Isabelle Saruggia, Cerys Gingell, Renske Janssen-Regelink, A. Micciche

Publikováno v: Journal of Pediatric Endocrinology & Metabolism, 33, 147-155
Journal of Pediatric Endocrinology & Metabolism, 33, 1, pp. 147-155
Journal of pediatric endocrinology and metabolism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of pediatric endocrinology & metabolism, 33(1), 147-155. Walter de Gruyter GmbH
Journal of Pediatric Endocrinology & Metabolism, 33(1), 147-155. De Gruyter

Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecda01fc69de777edfdb2c12a7795396
https://doi.org/10.1515/jpem-2019-0277

Dietary practices in propionic acidemia: A European survey

Autor: A. Micciche, Lucy White, D. Mayr, A. Kowalik, C. Jouault, Linn Helene Stolen, C. de Laet, E. Favre, Jaime Dalmau, A. Dianin, Júlio César Rocha, Isidro Vitoria, R. Janssen-Regelink, Anita MacDonald, Kathleen Ross, A. Fekete, S.M. Bernabei, N.M. Ter Horst, I. Jones, M. Assoun, F. de Boer, A. Terry, L. Tomlinson, C. Timmer, D. Webster, Marjorie Dixon, H. Rogozinski, K. Vande Kerckhove, Cerys Gingell, I.L. Kok, Anne Daly, C. Laguerre, David Cassiman, Cornelia Maddalon, Amaya Belanger-Quintana, E. van Dam, E. Sjoqvist, Gudrun Elise Kahrs, S. Bollhalder, F. Eyskens, R. Skeath, G. Gallo, Ulrike Och, Alison Tooke, A.M.J. van Wegberg, M. Van Driessche, M. van Rijn, Joanna Gribben, U. Meyer, I. Fasan, H. Champion, M.F. Almeida, R. Lilje, A. Faria, Kath Singleton, Martine Robert, T.A.M. van den Hurk, L. van der Ploeg, H. Chan, K. Dokoupil, C. Jankowski, H. Zweers, I. Saruggia, Andrea Schlune, A. De Meyer, Carmen Rohde, S. Le Verge, K. Kaalund Hansen, Sharon Evans, An Desloovere, François Feillet, Clara Vasconcelos, Sandrine Dubois, H. Vestergaard, F.J. White, Alex Pinto

Publikováno v: Molecular Genetics And Metabolism Reports
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Molecular Genetics and Metabolism Reports, 13, pp. 83-89
Molecular Genetics and Metabolism Reports, 13
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 83-89 (2017)
MOLECULAR GENETICS AND METABOLISM REPORTS
Molecular genetics and metabolism reports, 13, 83-89. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports, 13, 83-89
Molecular genetics and metabolism reports, 13, 83-89. Elsevier BV
Molecular Genetics and Metabolism Reports, 13, 83-89. Elsevier Science

Background The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. Aim To describe European dietary practices in the management of patients wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bd7748a8196339003952a468845be38
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=7198