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686 results

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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento A, Olivé M, Quan J, Sardina MD, Martí R, Paradas C. Domínguez-González C, et al. Among authors: marti i, marti r. Orphanet J Rare Dis. 2021 Oct 2;16(1):407. doi: 10.1186/s13023-021-02030-w. Orphanet J Rare Dis. 2021. PMID: 34600563 Free PMC article. Review.
Altered thymidine metabolism due to defects of thymidine phosphorylase.
Spinazzola A, Marti R, Nishino I, Andreu AL, Naini A, Tadesse S, Pela I, Zammarchi E, Donati MA, Oliver JA, Hirano M. Spinazzola A, et al. Among authors: marti r. J Biol Chem. 2002 Feb 8;277(6):4128-33. doi: 10.1074/jbc.M111028200. Epub 2001 Dec 3. J Biol Chem. 2002. PMID: 11733540 Free article.
Phenotypic variability in a Spanish family with MNGIE.
Gamez J, Ferreiro C, Accarino ML, Guarner L, Tadesse S, Martí RA, Andreu AL, Raguer N, Cervera C, Hirano M. Gamez J, et al. Among authors: marti ra. Neurology. 2002 Aug 13;59(3):455-7. doi: 10.1212/wnl.59.3.455. Neurology. 2002. PMID: 12177387
Analysis of human mitochondrial DNA mutations.
Andreu AL, Martí R, Hirano M. Andreu AL, et al. Among authors: marti r. Methods Mol Biol. 2003;217:185-97. doi: 10.1385/1-59259-330-5:185. Methods Mol Biol. 2003. PMID: 12491933 No abstract available.
686 results