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Page 1
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. Among authors: perez cerda c, perez m, perez b. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Among authors: perez m, perez b. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784
Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.
Berrocoso S, Amayra I, Lázaro E, Martínez O, López-Paz JF, García M, Pérez M, Al-Rashaida M, Rodríguez AA, Luna PM, Pérez-Núñez P, Blanco R, Nevado J. Berrocoso S, et al. Among authors: perez nunez p, perez m. Orphanet J Rare Dis. 2020 Oct 19;15(1):293. doi: 10.1186/s13023-020-01476-8. Orphanet J Rare Dis. 2020. PMID: 33076957 Free PMC article.
Analysis of Visuospatial Abilities in Chiari Malformation Type I.
García M, Lázaro E, Amayra I, López-Paz JF, Martínez O, Pérez M, Berrocoso S, Al-Rashaida M, Infante J. García M, et al. Among authors: perez m. Cerebellum. 2020 Feb;19(1):6-15. doi: 10.1007/s12311-019-01056-y. Cerebellum. 2020. PMID: 31286383
Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients.
Luna PM, López-Paz JF, García M, Amayra I, Martínez O, Pérez M, Rodríguez AA, Pérez-Núñez P, Ceberio I, Mansilla N, Soria C. Luna PM, et al. Among authors: perez nunez p, perez m. Behav Neurol. 2023 Feb 8;2023:9681740. doi: 10.1155/2023/9681740. eCollection 2023. Behav Neurol. 2023. PMID: 36815863 Free PMC article.
Cognition in Chiari Malformation Type I: an Update of a Systematic Review.
García M, Amayra I, Pérez M, Salgueiro M, Martínez O, López-Paz JF, Allen PA. García M, et al. Among authors: perez m. Neuropsychol Rev. 2024 Sep;34(3):952-973. doi: 10.1007/s11065-023-09622-2. Epub 2023 Oct 6. Neuropsychol Rev. 2024. PMID: 37798373 Free PMC article. Review.
Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies.
Pérez-Núñez P, Lázaro E, Amayra I, López-Paz JF, Caballero P, Martínez O, Pérez M, Berrocoso S, Al-Rashaida M, García M, Rodríguez AA, Luna PM. Pérez-Núñez P, et al. Among authors: perez m. Orphanet J Rare Dis. 2021 Nov 20;16(1):486. doi: 10.1186/s13023-021-02123-6. Orphanet J Rare Dis. 2021. PMID: 34801065 Free PMC article.
5,591 results