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[Excess weight in patients with cystic fibrosis: is it always beneficial?]

C. Martínez-Costa, L. Peña-Quintana, R. Leis Trabazo, 2017, Nutricion hospitalaria.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

B. Hartmann, P. Huppke, C. Pérez-Cerdá, 2017, Clinical genetics.

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

J. Armstrong, A. Ormazabal, R. Artuch, 2015, Orphanet Journal of Rare Diseases.