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Outcome of tyrosinaemia type III.
Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV. Ellaway CJ, et al. Among authors: ugarte m. J Inherit Metab Dis. 2001 Dec;24(8):824-32. doi: 10.1023/a:1013936107064. J Inherit Metab Dis. 2001. PMID: 11916315
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: ugarte m. J Inherit Metab Dis. 1995;18(2):119-22. doi: 10.1007/BF00711744. J Inherit Metab Dis. 1995. PMID: 7564224 No abstract available.
Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.
Tejedor JR, Soriano-Sexto A, Beccari L, Castejón-Fernández N, Correcher P, Sainz-Ledo L, Alba-Linares JJ, Urdinguio RG, Ugarte M, Fernández AF, Rodríguez-Pombo P, Fraga MF, Pérez B. Tejedor JR, et al. Among authors: ugarte m. J Inherit Metab Dis. 2025 Jan;48(1):e12829. doi: 10.1002/jimd.12829. Epub 2024 Dec 10. J Inherit Metab Dis. 2025. PMID: 39659154 Free PMC article.
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
Bravo-Alonso I, Morin M, Arribas-Carreira L, Álvarez M, Pedrón-Giner C, Soletto L, Santolaria C, Ramón-Maiques S, Ugarte M, Rodríguez-Pombo P, Ariño J, Moreno-Pelayo MÁ, Pérez B. Bravo-Alonso I, et al. Among authors: ugarte m. J Inherit Metab Dis. 2023 Mar;46(2):261-272. doi: 10.1002/jimd.12584. Epub 2023 Jan 2. J Inherit Metab Dis. 2023. PMID: 36564894
360 results