Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Autor: Matthias R. Baumgartner, Eva Morava, A. M. Das, S. Geb, J. B.C. deKlerk, Nathalie Guffon, Martin Lindner, Olaf Bodamer, E. Müller, Tamaris Zwickler, Stefan Kölker, Alberto Burlina, U. Wendel, E. M. Maier, Frits A. Wijburg, John H. Walter, Gülden Gökçay, Stephanie Grunewald, Friederike Hörster, Bernd Schwahn, H. I. Aydin

Publikováno v: Journal of Inherited Metabolic Disease, 31, 3, pp. 361-7
Journal of inherited metabolic disease, 31(3), 361-367. Springer Netherlands
Journal of Inherited Metabolic Disease, 31, 361-7
Journal of Inherited Metabolic Disease, 31, 361-367. Springer Netherlands

Contains fulltext : 70060.pdf (Publisher’s version ) (Closed access) The long-term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due to a high frequency of complications such as chronic renal failure and metabolic stroke.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f7483123521d31b63380cf513b08aa
https://doi.org/10.1007/s10545-008-0804-2