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Page 1
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol J, Artuch R. Sempere A, et al. Med Clin (Barc). 2009 Nov 21;133(19):745-9. doi: 10.1016/j.medcli.2009.06.065. Epub 2009 Nov 5. Med Clin (Barc). 2009. PMID: 19892372 Spanish.
Creatine transporter deficiency in two adult patients with static encephalopathy.
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J. Sempere A, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S91-6. doi: 10.1007/s10545-009-1083-2. Epub 2009 Mar 25. J Inherit Metab Dis. 2009. PMID: 19319661 Review.
Arginine supplementation in four patients with X-linked creatine transporter defect.
Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J. Fons C, et al. Among authors: sempere a. J Inherit Metab Dis. 2008 Dec;31(6):724-8. doi: 10.1007/s10545-008-0902-1. Epub 2008 Oct 16. J Inherit Metab Dis. 2008. PMID: 18925426
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Arias A, Corbella M, Fons C, Sempere A, García-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pàmpols T, Salomons GS, Ribes A, Artuch R. Arias A, et al. Among authors: sempere a. Clin Biochem. 2007 Nov;40(16-17):1328-31. doi: 10.1016/j.clinbiochem.2007.07.010. Epub 2007 Aug 10. Clin Biochem. 2007. PMID: 17825809
Epilepsy spectrum in cerebral creatine transporter deficiency.
Fons C, Sempere A, Sanmartí FX, Arias A, Póo P, Pineda M, Ribes A, Merinero B, Vilaseca MA, Salomons GS, Artuch R, Campistol J. Fons C, et al. Among authors: sempere a. Epilepsia. 2009 Sep;50(9):2168-70. doi: 10.1111/j.1528-1167.2009.02142.x. Epilepsia. 2009. PMID: 19706062 Free article. No abstract available.
Novel features in the evolution of adenylosuccinate lyase deficiency.
Pérez-Dueñas B, Sempere A, Campistol J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR, Artuch R. Pérez-Dueñas B, et al. Among authors: sempere a. Eur J Paediatr Neurol. 2012 Jul;16(4):343-8. doi: 10.1016/j.ejpn.2011.08.008. Epub 2011 Sep 7. Eur J Paediatr Neurol. 2012. PMID: 21903433
AI in medicine: No longer the future, but the present.
Sempere A, González-Rioja X, Martinez E. Sempere A, et al. HIV Med. 2024 Nov 11. doi: 10.1111/hiv.13732. Online ahead of print. HIV Med. 2024. PMID: 39529447 No abstract available.
Burden of liver steatosis and liver fibrosis in a large cohort of people living with HIV.
Laguno M, de Lazzari E, Berrocal L, Inciarte A, Martínez-Rebollar M, de la Mora L, Torres B, Gonzalez-Cordón A, Chivite I, Foncillas A, Calvo J, Sempere A, Ambrosioni J, Blanco JL, Miro JM, Mallolas J, Martínez E. Laguno M, et al. Among authors: sempere a. HIV Med. 2024 Nov 7. doi: 10.1111/hiv.13730. Online ahead of print. HIV Med. 2024. PMID: 39508213
245 results