Vilaseca MA - Search Results

1

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. Among authors: vilaseca ma. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.

2

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM. Tessa A, et al. Among authors: vilaseca ma. Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930. Hum Mutat. 2009. PMID: 19242930

3

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

4

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.

Häberle J, Vilaseca MA, Meli C, Rigoldi M, Jara F, Vecchio I, Capra C, Parini R. Häberle J, et al. Among authors: vilaseca ma. Eur J Obstet Gynecol Reprod Biol. 2010 Apr;149(2):228-9. doi: 10.1016/j.ejogrb.2009.11.014. Epub 2009 Dec 14. Eur J Obstet Gynecol Reprod Biol. 2010. PMID: 20005624 No abstract available.

5

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.

6

Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies.

Also-Rallo E, Lopez-Quesada E, Urreizti R, Vilaseca MA, Lailla JM, Balcells S, Grinberg D. Also-Rallo E, et al. Among authors: vilaseca ma. Eur J Obstet Gynecol Reprod Biol. 2005 May 1;120(1):45-52. doi: 10.1016/j.ejogrb.2004.08.008. Eur J Obstet Gynecol Reprod Biol. 2005. PMID: 15866085

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

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

9

Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.

Cerisola A, Campistol J, Pérez-Dueñas B, Poo P, Pineda M, García-Cazorla A, Sanmartí FX, Ribes A, Vilaseca MA. Cerisola A, et al. Among authors: vilaseca ma. Pediatr Neurol. 2009 Jun;40(6):426-31. doi: 10.1016/j.pediatrneurol.2008.12.009. Pediatr Neurol. 2009. PMID: 19433275

10

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

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