Pineda M - Search Results

1

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

Iqbal F, Item CB, Vilaseca MA, Jalan A, Mühl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA. Iqbal F, et al. Among authors: pineda m. Mol Genet Metab. 2010 May;100(1):42-5. doi: 10.1016/j.ymgme.2009.12.016. Epub 2010 Jan 4. Mol Genet Metab. 2010. PMID: 20083419

2

Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection.

Artuch R, Colomé C, Vilaseca MA, Aracil A, Pineda M. Artuch R, et al. Among authors: pineda m. J Neurosci Methods. 2002 Mar 30;115(1):63-6. doi: 10.1016/s0165-0270(01)00533-7. J Neurosci Methods. 2002. PMID: 11897364

3

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M. Couce ML, et al. Among authors: pineda m. Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Med Clin (Barc). 2011. PMID: 21752405 Spanish.

4

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.

Vallejo-Torres L, Castilla I, Couce ML, Pérez-Cerdá C, Martín-Hernández E, Pineda M, Campistol J, Arrospide A, Morris S, Serrano-Aguilar P. Vallejo-Torres L, et al. Among authors: pineda m. Pediatrics. 2015 Aug;136(2):e424-32. doi: 10.1542/peds.2014-3399. Epub 2015 Jul 13. Pediatrics. 2015. PMID: 26169436

5

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.

Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R. Bellusci M, et al. Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590. Genes (Basel). 2021. PMID: 34680984 Free PMC article.

6

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: pineda m. Pediatr Neurol. 2009 Jun;40(6):426-31. doi: 10.1016/j.pediatrneurol.2008.12.009. Pediatr Neurol. 2009. PMID: 19433275

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: pineda m. 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

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: pineda m. 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

9

The monitoring of trace elements in blood samples from patients with inborn errors of metabolism.

Tondo M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Moreno J, García-Cazorla A, Pérez-Dueñas B, Pineda M, Campistol J, Vilaseca MA, Artuch R. Tondo M, et al. Among authors: pineda m. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S43-9. doi: 10.1007/s10545-009-9015-8. Epub 2010 Jan 6. J Inherit Metab Dis. 2010. PMID: 20052548

10

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Gonzalez V, Fernández-Alvarez E, Pineda M, Campistol J, Artuch R. Ormazabal A, et al. Among authors: pineda m. Clin Chim Acta. 2006 Sep;371(1-2):159-62. doi: 10.1016/j.cca.2006.03.004. Epub 2006 Apr 19. Clin Chim Acta. 2006. PMID: 16624264

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