Bóveda MD - Search Results

1

Risk factors for developing mineral bone disease in phenylketonuric patients.

Mirás A, Bóveda MD, Leis MR, Mera A, Aldámiz-Echevarría L, Fernández-Lorenzo JR, Fraga JM, Couce ML. Mirás A, et al. Among authors: boveda md. Mol Genet Metab. 2013 Mar;108(3):149-54. doi: 10.1016/j.ymgme.2012.12.008. Epub 2013 Jan 5. Mol Genet Metab. 2013. PMID: 23352389

2

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. 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

3

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: boveda md. 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

4

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. Among authors: boveda md. Rapid Commun Mass Spectrom. 2012 Sep 30;26(18):2131-44. doi: 10.1002/rcm.6325. Rapid Commun Mass Spectrom. 2012. PMID: 22886809

5

Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.

Couce ML, Bóveda MD, Valerio E, Pérez-Muñuzuri A, Fraga JM. Couce ML, et al. Among authors: boveda md. JIMD Rep. 2012;2:91-6. doi: 10.1007/8904_2011_53. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430859 Free PMC article.

6

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

Couce ML, Bóveda MD, Fernández-Marmiesse A, Mirás A, Pérez B, Desviat LR, Fraga JM. Couce ML, et al. Among authors: boveda md. Gene. 2013 May 25;521(1):100-4. doi: 10.1016/j.gene.2013.03.004. Epub 2013 Mar 14. Gene. 2013. PMID: 23500595

7

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.

Couce ML, Bóveda MD, García-Jimémez C, Balmaseda E, Vives I, Castiñeiras DE, Fernández-Marmiesse A, Fraga JM, Mudd SH, Corrales FJ. Couce ML, et al. Among authors: boveda md. Mol Genet Metab. 2013 Nov;110(3):218-21. doi: 10.1016/j.ymgme.2013.08.003. Epub 2013 Aug 14. Mol Genet Metab. 2013. PMID: 23993429

8

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.

Couce ML, Macías-Vidal J, Castiñeiras DE, Bóveda MD, Fraga JM, Fernández-Marmiesse A, Coll MJ. Couce ML, et al. Among authors: boveda md. Eur J Med Genet. 2014 Sep;57(9):527-31. doi: 10.1016/j.ejmg.2014.06.005. Epub 2014 Jun 30. Eur J Med Genet. 2014. PMID: 24993898

9

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.

Marcão A, Couce ML, Nogueira C, Fonseca H, Ferreira F, Fraga JM, Bóveda MD, Vilarinho L. Marcão A, et al. Among authors: boveda md. JIMD Rep. 2015;20:113-20. doi: 10.1007/8904_2014_400. Epub 2015 Feb 1. JIMD Rep. 2015. PMID: 25638462 Free PMC article.

10

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla S, Bóveda MD, Fernández-Marmiesse A, García-Cazorla A. Couce ML, et al. Among authors: boveda md. Eur J Paediatr Neurol. 2015 Nov;19(6):652-9. doi: 10.1016/j.ejpn.2015.07.009. Epub 2015 Jul 20. Eur J Paediatr Neurol. 2015. PMID: 26232051

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