Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M)

Autor: Chabrol, B., Jacquin, P., Francois, L., Broué, P., Dobbelaere, D., Douillard, C., Dubois, S., Feillet, F., Perrier, A., Fouilhoux, A., Labarthe, F., Lamireau, D., Mazodier, K., Maillot, F., Mochel, F., Schiff, M., Belmatoug, N.

Publikováno v: In Archives de pédiatrie July 2018 25(5):344-349

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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Autor: Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐ Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐ Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., de Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Additional individual contributors from E‐IMD

Publikováno v: Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, M L, Chapman, K A, Barić, I, Lund, A M, Kölker, S, Williams, M & Additional individual contributors from E-IMD 2019, ' Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry ', Journal of Inherited Metabolic Disease, vol. 42, no. 6, pp. 1162-1175 . https://doi.org/10.1002/jimd.12066
Journal of Inherited Metabolic Disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease

Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89b7c01c485c59a8126f7cfff030cc7
https://doi.org/10.1002/jimd.12066

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Autor: Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M, Urea Cycle Disorders Consortium (UCDC), European registry and network for Intoxication type Metabolic Diseases (E-IMD)

Publikováno v: SCIENTIFIC REPORTS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evidence-based studies hamper our knowledge o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::02d916b5f84fa732a2f339867a912313
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18002