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[Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients].
Gutiérrez-Mata AP, Vilaseca MA, Capdevila-Cirera A, Vidal-Oller M, Alonso-Colmenero I, Colomé R, López-Sala A, Lambruschini-Ferri N, Gutiérrez A, Gassió R, Artuch R, Campistol J. Gutiérrez-Mata AP, et al. Rev Neurol. 2012 Aug 16;55(4):200-6. Rev Neurol. 2012. PMID: 22829083 Free article. Clinical Trial. Spanish.
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB. García-Cazorla A, et al. Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24449431
29 results