García MJ - 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. Among authors: garcia mj. Eur J Hum Genet. 1999 Apr;7(3):386-92. doi: 10.1038/sj.ejhg.5200312. Eur J Hum Genet. 1999. PMID: 10234516

2

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. Among authors: garcia mj. 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

3

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

Pérez B, Desviat LR, García MJ, Ugarte M. Pérez B, et al. Among authors: garcia mj. J Inherit Metab Dis. 1994;17(3):377-8. doi: 10.1007/BF00711839. J Inherit Metab Dis. 1994. PMID: 7807962 No abstract available.

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. Among authors: garcia mj. 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. Among authors: garcia mj. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784

6

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. Among authors: garcia mj. 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

7

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. Among authors: garcia mj. 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

8

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. Among authors: garcia mj. J Inherit Metab Dis. 1994;17(3):366-8. doi: 10.1007/BF00711832. J Inherit Metab Dis. 1994. PMID: 7807955 No abstract available.

9

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. Among authors: garcia mj. 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

10

A new case of succinyl-CoA: acetoacetate transferase deficiency.

Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, Hernández C, García MJ, Ugarte M. Pérez-Cerdá C, et al. Among authors: garcia mj. J Inherit Metab Dis. 1992;15(3):371-3. doi: 10.1007/BF02435979. J Inherit Metab Dis. 1992. PMID: 1405472 No abstract available.

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