Martínez-Pardo M - Search Results

1

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

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

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

4

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

5

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

6

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A. Busquets C, et al. Pediatr Res. 2000 Sep;48(3):315-22. doi: 10.1203/00006450-200009000-00009. Pediatr Res. 2000. PMID: 10960496

7

Hyperammonaemia as a cause of psychosis in an adolescent.

Bélanger-Quintana A, Martínez-Pardo M, García MJ, Wermuth B, Torres J, Pallarés E, Ugarte M. Bélanger-Quintana A, et al. Eur J Pediatr. 2003 Nov;162(11):773-5. doi: 10.1007/s00431-002-1126-2. Epub 2003 Aug 27. Eur J Pediatr. 2003. PMID: 12942317

8

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

9

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.

Bélanger-Quintana A, García MJ, Castro M, Desviat LR, Pérez B, Mejía B, Ugarte M, Martínez-Pardo M. Bélanger-Quintana A, et al. Mol Genet Metab. 2005 Dec;86 Suppl 1:S61-6. doi: 10.1016/j.ymgme.2005.07.024. Epub 2005 Sep 13. Mol Genet Metab. 2005. PMID: 16165389

10

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318

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