Castiñeiras D - Search Results

1

A glimpse into past, present, and future DNA sequencing.

Morey M, Fernández-Marmiesse A, Castiñeiras D, Fraga JM, Couce ML, Cocho JA. Morey M, et al. Among authors: castineiras d. Mol Genet Metab. 2013 Sep-Oct;110(1-2):3-24. doi: 10.1016/j.ymgme.2013.04.024. Epub 2013 May 11. Mol Genet Metab. 2013. PMID: 23742747 Review.

2

[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment].

Couce Pico ML, Martinón-Torres F, Castiñeiras DE, Alonso-Fernández JR, Fraga JM. Couce Pico ML, et al. Among authors: castineiras de. An Esp Pediatr. 1999 May;50(5):504-6. An Esp Pediatr. 1999. PMID: 10394193 Spanish. No abstract available.

3

The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.

Bóveda MD, Couce ML, Castiñeiras DE, Cocho JA, Pérez B, Ugarte M, Fraga JM. Bóveda MD, et al. Among authors: castineiras de. J Inherit Metab Dis. 2007 Oct;30(5):812. doi: 10.1007/s10545-007-0567-1. Epub 2007 Jun 21. J Inherit Metab Dis. 2007. PMID: 17603758

4

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

Couce ML, Bóveda MD, Castiñeiras DE, Corrales FJ, Mora MI, Fraga JM, Mudd SH. Couce ML, et al. Among authors: castineiras de. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S233-9. doi: 10.1007/s10545-008-0811-3. Epub 2008 May 20. J Inherit Metab Dis. 2008. PMID: 18500573

5

[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: castineiras d. 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.

6

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme.

Couce ML, Castiñeiras DE, Bóveda MD, Baña A, Cocho JA, Iglesias AJ, Colón C, Alonso-Fernández JR, Fraga JM. Couce ML, et al. Mol Genet Metab. 2011 Dec;104(4):470-5. doi: 10.1016/j.ymgme.2011.09.021. Epub 2011 Sep 22. Mol Genet Metab. 2011. PMID: 22000754

7

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism.

Rebollido-Fernandez MM, Castiñeiras DE, Bóveda MD, Couce ML, Cocho JA, Fraga JM. Rebollido-Fernandez MM, et al. Rapid Commun Mass Spectrom. 2012 Sep 30;26(18):2131-44. doi: 10.1002/rcm.6325. Rapid Commun Mass Spectrom. 2012. PMID: 22886809

8

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, Castro-Gago M, Fraga JM, Ribes A. Couce ML, et al. Eur J Paediatr Neurol. 2013 Jul;17(4):383-9. doi: 10.1016/j.ejpn.2013.01.003. Epub 2013 Feb 5. Eur J Paediatr Neurol. 2013. PMID: 23395213

9

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

Couce ML, Castiñeiras DE, Moure JD, Cocho JA, Sánchez-Pintos P, García-Villoria J, Quelhas D, Gregersen N, Andresen BS, Ribes A, Fraga JM. Couce ML, et al. Among authors: castineiras de. JIMD Rep. 2011;1:131-6. doi: 10.1007/8904_2011_28. Epub 2011 Jun 25. JIMD Rep. 2011. PMID: 23430840 Free PMC article.

10

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, Bueno MA, Delgado-Pecellín C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H. Couce ML, et al. Orphanet J Rare Dis. 2013 Jul 10;8:102. doi: 10.1186/1750-1172-8-102. Orphanet J Rare Dis. 2013. PMID: 23842438 Free PMC article.

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