Vilaseca MA - Search Results

1

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.

Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R. Espinós C, et al. Among authors: vilaseca ma. J Med Genet. 2009 Jun;46(6):407-11. doi: 10.1136/jmg.2008.060632. Epub 2009 Mar 19. J Med Genet. 2009. PMID: 19304569 Free article.

2

Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid.

Ormazabal A, Artuch R, Vilaseca MA, Aracil A, Pineda M. Ormazabal A, et al. Among authors: vilaseca ma. Neuropediatrics. 2005 Dec;36(6):380-5. doi: 10.1055/s-2005-873078. Neuropediatrics. 2005. PMID: 16429378 Clinical Trial.

3

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.

Espinós C, García-Cazorla A, Martínez-Rubio D, Martínez-Martínez E, Vilaseca MA, Pérez-Dueñas B, Kožich V, Palau F, Artuch R. Espinós C, et al. Among authors: vilaseca ma. Clin Genet. 2010 Dec;78(6):554-9. doi: 10.1111/j.1399-0004.2010.01431.x. Clin Genet. 2010. PMID: 20584029

4

Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease.

Artuch R, Vilaseca MA, Pineda M. Artuch R, et al. Among authors: vilaseca ma. J Inherit Metab Dis. 1998 Dec;21(8):837-45. doi: 10.1023/a:1005470702369. J Inherit Metab Dis. 1998. PMID: 9870209

5

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity.

Pineda M, Ribes A, Busquets C, Vilaseca MA, Aracil A, Christensen E. Pineda M, et al. Among authors: vilaseca ma. Dev Med Child Neurol. 1998 Dec;40(12):840-2. doi: 10.1111/j.1469-8749.1998.tb12362.x. Dev Med Child Neurol. 1998. PMID: 9881681 Free article.

6

Diagnostic approach to inborn errors of metabolism in an emergency unit.

Calvo M, Artuch R, Macià E, Luaces C, Vilaseca MA, Pou J, Pineda M. Calvo M, et al. Among authors: vilaseca ma. Pediatr Emerg Care. 2000 Dec;16(6):405-8. doi: 10.1097/00006565-200012000-00006. Pediatr Emerg Care. 2000. PMID: 11138882

7

Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation.

Colomé C, Ferrer I, Artuch R, Vilaseca MA, Pineda M, Briones P. Colomé C, et al. Among authors: vilaseca ma. Clin Chem Lab Med. 2000 Oct;38(10):965-9. doi: 10.1515/CCLM.2000.143. Clin Chem Lab Med. 2000. PMID: 11140630

8

Cerebrospinal fluid concentrations of idebenone in Friedreich ataxia patients.

Artuch R, Aracil A, Mas A, Monrós E, Vilaseca MA, Pineda M. Artuch R, et al. Among authors: vilaseca ma. Neuropediatrics. 2004 Apr;35(2):95-8. doi: 10.1055/s-2004-815830. Neuropediatrics. 2004. PMID: 15127307

9

[Pathogenetic mechanisms in phenylketonuria: disorders affecting the metabolism of neurotransmitters and the antioxidant system].

Ormazábal A, Artuch R, Vilaseca MA, García-Cazorla A, Campistol J. Ormazábal A, et al. Among authors: vilaseca ma. Rev Neurol. 2004 Nov 16-30;39(10):956-61. Rev Neurol. 2004. PMID: 15573314 Free article. Review. Spanish.

10

[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.

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