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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

SLC13A3 variants cause acute reversible leukoencephalopathy and alpha-ketoglutarate accumulation

Autor: Dewulf, J., Wiame, Elsa, Dorboz, I., Elmaleh-Berges, Monique, Imbard, Apolline, Dumitriu, Dana, Wevers, R.A., Nassogne, M.C., Schiff, M.

Publikováno v: Annals of Neurology, 85, 3, pp. 385-395
Annals of Neurology, 85, 385-395

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cc3331b1ea478a5bef15d0911daed73b
https://hdl.handle.net/2066/202135

Clinical approach to inherited metabolic disorders in neonates: an overview

Autor: Saudubray, J.M., Nassogne, M.C., de Lonlay, P., Touati, G.

Publikováno v: In Seminars in Neonatology February 2002 7(1):3-15

diagnostic et devenir à long terme du bébé secoué

Autor: Nassogne, M.C., Bonnier, C.

Publikováno v: In Journal de pediatrie et de puericulture 2001 14(4):235-239