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

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Aztreonam lysine for inhalation as a treatment for Burkholderia cepacia complex in CF

Autor: Willekens, Julie, De Wachter, Elke, De Schutter, Iris, Vanderhelst, E, De Meirleir, L., Malfroot, Anne

Objectives: Aztreonam lysine for inhalation (AZLI) has been proven effective in the treatment of chronic Ps. aeruginosa (PA) infection in CF. It is not clear whether patients with other infecting organisms, such as B. cepacia complex (Bcc), could ben

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::844a07f3768372be37459596413906ca
https://biblio.vub.ac.be/vubir/aztreonam-lysine-for-inhalation-as-a-treatment-for-burkholderia-cepacia-complex-in-cf(29878663-88f0-4c0b-949d-9aa913c7471d).html

ANALYSIS OF COQ SYNTHESIS USING LABELED NON RADIOACTIVE SUBSTRATES. APPLICATION FOR THE DIAGNOSIS OF PRIMARY COQ10 DEFICIENCIES

Autor: Bujan, N, Arias, A, Montero, R, Garcia-Villoria, J, Lissens, W, Seneca, S, Espinos, C, De Meirleir, L, Artuch-Iriberri R, Briones, P, Ribes, A

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::6255bf44dfc4eb4a55d951be2852a106
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21559

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Autor: Namavar, Y, Barth, Pg, Kasher, Pr, van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, Ey, Ferriero, Dm, Basel-Vanagaite, L, Eggens, Vr, Krägeloh-Mann, I, De Meirleir, L, King, M, Graham JM Jr, von Moers, A, Knoers, N, Sztriha, L, Korinthenberg, R, Dobyns, Wb, Baas, F, Poll-The, Bt, Pch, Consortium, Battini, R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3728::bf9aa549b03beb4bcf5ee7a932de398a
http://hdl.handle.net/11568/951234