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Page 1
A new case of succinyl-CoA: acetoacetate transferase deficiency.
Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, Hernández C, García MJ, Ugarte M. Pérez-Cerdá C, et al. Among authors: sanz p. J Inherit Metab Dis. 1992;15(3):371-3. doi: 10.1007/BF02435979. J Inherit Metab Dis. 1992. PMID: 1405472 No abstract available.
Liver transplantation in nine Spanish patients with tyrosinaemia type I.
Pérez-Cerdá C, Merinero B, Sanz P, Castro M, Gangoiti J, García MJ, Díaz M, Medina E, Ugarte M. Pérez-Cerdá C, et al. Among authors: sanz p. J Inherit Metab Dis. 1995;18(2):119-22. doi: 10.1007/BF00711744. J Inherit Metab Dis. 1995. PMID: 7564224 No abstract available.
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: sanz p. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784
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. Among authors: sanz p. Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24449431
435 results