Vilaseca MA - Search Results

1

A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.

Ruiz A, García-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A. Ruiz A, et al. Among authors: vilaseca ma. Mol Genet Metab. 2008 Feb;93(2):216-8. doi: 10.1016/j.ymgme.2007.10.003. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024216

2

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.

Ruiz Gomez A, Couce ML, Garcia-Villoria J, Torres A, Baña Souto A, Yagüe J, Vilaseca MA, Ribes A, Aróstegui JI. Ruiz Gomez A, et al. Among authors: vilaseca ma. Pediatrics. 2012 Feb;129(2):e535-9. doi: 10.1542/peds.2010-2192. Epub 2012 Jan 23. Pediatrics. 2012. PMID: 22271696

3

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

Lambruschini N, Pérez-Dueñas B, Vilaseca MA, Mas A, Artuch R, Gassió R, Gómez L, Gutiérrez A, Campistol J. Lambruschini N, et al. Among authors: vilaseca ma. Mol Genet Metab. 2005 Dec;86 Suppl 1:S54-60. doi: 10.1016/j.ymgme.2005.05.014. Epub 2005 Jul 22. Mol Genet Metab. 2005. PMID: 16040265

4

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. Among authors: vilaseca ma. 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

5

Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency.

Ortez C, Villar C, Fons C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazábal A, Casado M, Campistol J, Vilaseca MA, García-Cazorla A. Ortez C, et al. Among authors: vilaseca ma. J Alzheimers Dis. 2011;27(2):253-7. doi: 10.3233/JAD-2011-110647. J Alzheimers Dis. 2011. PMID: 21841256

6

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: vilaseca ma. 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

7

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P. Quintana E, et al. Among authors: vilaseca ma. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S315-9. doi: 10.1007/s10545-010-9169-4. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652410

8

[Congenital disorders of glycosylation: state of the art and Spanish experience].

Vilaseca MA, Artuch R, Briones P. Vilaseca MA, et al. Med Clin (Barc). 2004 May 15;122(18):707-16. doi: 10.1016/s0025-7753(04)74362-6. Med Clin (Barc). 2004. PMID: 15171833 Review. Spanish.

9

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

Montero R, Pineda M, Aracil A, Vilaseca MA, Briones P, Sánchez-Alcázar JA, Navas P, Artuch R. Montero R, et al. Among authors: vilaseca ma. Cerebellum. 2007;6(2):118-22. doi: 10.1080/14734220601021700. Cerebellum. 2007. PMID: 17510911 Review.

10

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.

Serrano M, Lizarraga I, Reiss J, Dias AP, Pérez-Dueñas B, Vilaseca MA, Artuch R, Campistol J, García-Cazorla A. Serrano M, et al. Among authors: vilaseca ma. Pediatr Radiol. 2007 Oct;37(10):1043-6. doi: 10.1007/s00247-007-0558-2. Epub 2007 Aug 18. Pediatr Radiol. 2007. PMID: 17704913

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