Arias A - Search Results

1

Methods for the diagnosis of creatine deficiency syndromes: a comparative study.

Arias A, Ormazabal A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch R, Ribes A. Arias A, et al. J Neurosci Methods. 2006 Sep 30;156(1-2):305-9. doi: 10.1016/j.jneumeth.2006.03.005. Epub 2006 Apr 18. J Neurosci Methods. 2006. PMID: 16621013

2

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.

Arias A, Garcia-Villoria J, Ribes A. Arias A, et al. Mol Genet Metab. 2004 Jul;82(3):220-3. doi: 10.1016/j.ymgme.2004.04.009. Mol Genet Metab. 2004. PMID: 15234335

3

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. 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

4

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

Póo-Argüelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G. Póo-Argüelles P, et al. Among authors: arias a. J Inherit Metab Dis. 2006 Feb;29(1):220-3. doi: 10.1007/s10545-006-0212-4. J Inherit Metab Dis. 2006. PMID: 16601898

5

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: arias 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

6

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. Among authors: arias a. 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.

7

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A. Fons C, et al. Among authors: arias a. Mol Genet Metab. 2010 Mar;99(3):296-9. doi: 10.1016/j.ymgme.2009.10.186. Epub 2009 Nov 1. Mol Genet Metab. 2010. PMID: 19955008 Clinical Trial.

8

Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS.

Arias A, García-Villoria J, Rojo A, Buján N, Briones P, Ribes A. Arias A, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Nov 1;908:23-6. doi: 10.1016/j.jchromb.2012.09.027. Epub 2012 Sep 20. J Chromatogr B Analyt Technol Biomed Life Sci. 2012. PMID: 23122397

9

[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. Among authors: arias a. 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.

10

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, García-Cazorla A, Vilaseca MA, Ribes A, Artuch R, Campistol J. Sempere A, et al. Among authors: arias a. J Inherit Metab Dis. 2010 Feb;33(1):1-7. doi: 10.1007/s10545-009-9004-y. Epub 2010 Jan 5. J Inherit Metab Dis. 2010. PMID: 20049533

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