Martínez-Pardo M - Search Results

1

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493

2

Phenotype distribution in the Spanish phenylketonuria population and related genotypes.

Martínez-Pardo M, Colmenares AR, García MJ, Pérez B, Desviat LR, Ugarte M. Martínez-Pardo M, et al. J Inherit Metab Dis. 1994;17(3):366-8. doi: 10.1007/BF00711832. J Inherit Metab Dis. 1994. PMID: 7807955 No abstract available.

3

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784

4

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

Merinero B, Pérez-Cerdá C, Ruiz Sala P, Ferrer I, García MJ, Martínez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernández E, Vianey-Saban C, Bischoff C, Gregersen N, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2006 Oct;29(5):685. doi: 10.1007/s10545-006-0342-8. Epub 2006 Aug 12. J Inherit Metab Dis. 2006. PMID: 16906473

5

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

Pérez B, Medrano C, Ecay MJ, Ruiz-Sala P, Martínez-Pardo M, Ugarte M, Pérez-Cerdá C. Pérez B, et al. J Inherit Metab Dis. 2013 May;36(3):535-42. doi: 10.1007/s10545-012-9525-7. Epub 2012 Sep 14. J Inherit Metab Dis. 2013. PMID: 22976764

6

Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.

Desviat LR, Pérez B, García MJ, Martínez-Pardo M, Baldellou A, Arena J, Sanjurjo P, Campistol J, Couce ML, Fernández A, Cardesa J, Ugarte M. Desviat LR, et al. Eur J Hum Genet. 1997 Jul-Aug;5(4):196-202. Eur J Hum Genet. 1997. PMID: 9359039

7

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.

Desviat LR, Pérez B, Bèlanger-Quintana A, Castro M, Aguado C, Sánchez A, García MJ, Martínez-Pardo M, Ugarte M. Desviat LR, et al. Mol Genet Metab. 2004 Sep-Oct;83(1-2):157-62. doi: 10.1016/j.ymgme.2004.06.007. Mol Genet Metab. 2004. PMID: 15464430

8

BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.

Aguado C, Pérez B, García MJ, Bélanger-Quintana A, Martínez-Pardo M, Ugarte M, Desviat LR. Aguado C, et al. Clin Chim Acta. 2007 May 1;380(1-2):8-12. doi: 10.1016/j.cca.2007.02.034. Clin Chim Acta. 2007. PMID: 17408607

9

Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.

Merinero B, Pérez-Cerdá C, Font LM, Garcia MJ, Aparicio M, Lorenzo G, Martinez Pardo M, Garzo C, Martinez-Bermejo A, Pascual Castroviejo I, et al. Merinero B, et al. Neuropediatrics. 1995 Oct;26(5):238-42. doi: 10.1055/s-2007-979763. Neuropediatrics. 1995. PMID: 8552212

10

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

Desviat LR, Pérez B, Gámez A, Sánchez A, García MJ, Martínez-Pardo M, Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello ML, Ugarte M. Desviat LR, et al. Eur J Hum Genet. 1999 Apr;7(3):386-92. doi: 10.1038/sj.ejhg.5200312. Eur J Hum Genet. 1999. PMID: 10234516

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