Vilaseca MA - Search Results

1

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: vilaseca ma. 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.

2

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: vilaseca ma. J Inherit Metab Dis. 2006 Feb;29(1):220-3. doi: 10.1007/s10545-006-0212-4. J Inherit Metab Dis. 2006. PMID: 16601898

3

[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].

Campistol J, Arias-Dimas A, Poo P, Pineda M, Hoffman M, Vilaseca MA, Artuch R, Ribes A. Campistol J, et al. Among authors: vilaseca ma. Rev Neurol. 2007 Mar 16-31;44(6):343-7. Rev Neurol. 2007. PMID: 17385170 Free article. Spanish.

4

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: vilaseca ma. 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

5

[Biotinidase deficiency. Its form of presentation and response to treatment].

Campistol J, Vilaseca MA, Ribes A, Riudor E. Campistol J, et al. Among authors: vilaseca ma. An Esp Pediatr. 1996 Apr;44(4):389-92. An Esp Pediatr. 1996. PMID: 8796946 Review. Spanish. No abstract available.

6

[Ubiquinone: metabolism and functions. Ubiquinone deficiency and its implication in mitochondrial encephalopathies. Treatment with ubiquinone].

Artuch R, Colomé C, Vilaseca MA, Pineda M, Campistol J. Artuch R, et al. Among authors: vilaseca ma. Rev Neurol. 1999 Jul 1-15;29(1):59-63. Rev Neurol. 1999. PMID: 10528314 Review. Spanish.

7

Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

Vilaseca MA, Kobayashi K, Briones P, Lambruschini N, Campistol J, Tabata A, Alomar A, Rodès M, Lluch M, Saheki T. Vilaseca MA, et al. Mol Genet Metab. 2001 Nov;74(3):396-8. doi: 10.1006/mgme.2001.3221. Mol Genet Metab. 2001. PMID: 11708871

8

Late-onset form of beta-electron transfer flavoprotein deficiency.

Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. Curcoy A, et al. Among authors: vilaseca ma. Mol Genet Metab. 2003 Apr;78(4):247-9. doi: 10.1016/s1096-7192(03)00024-6. Mol Genet Metab. 2003. PMID: 12706375

9

[Diagnosis and treatment of brain creatine deficiency syndromes].

Arias-Dimas A, Vilaseca MA, Artuch R, Ribes A, Campistol J. Arias-Dimas A, et al. Among authors: vilaseca ma. Rev Neurol. 2006 Sep 1-15;43(5):302-8. Rev Neurol. 2006. PMID: 16941429 Free article. Review. Spanish.

10

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

Pérez-Dueñas B, García-Cazorla A, Pineda M, Poo P, Campistol J, Cusí V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch R, Vilaseca MA. Pérez-Dueñas B, et al. Among authors: vilaseca ma. Eur J Paediatr Neurol. 2009 Sep;13(5):444-51. doi: 10.1016/j.ejpn.2008.09.002. Epub 2008 Oct 22. Eur J Paediatr Neurol. 2009. PMID: 18948042

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