Pérez-Cerdá C - Search Results

1

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

Merinero B, Pascual Pascual SI, Pérez-Cerdá C, Gangoiti J, Castro M, Garcia MJ, Pascual Castroviejo I, Vianey-Saban C, Andresen B, Gregersen N, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 1999 Oct;22(7):802-10. doi: 10.1023/a:1005553907216. J Inherit Metab Dis. 1999. PMID: 10518280

2

Investigation of enzyme defects in children with lactic acidosis.

Merinero B, Pérez-Cerda C, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 1992;15(5):696-706. doi: 10.1007/BF01800009. J Inherit Metab Dis. 1992. PMID: 1331606

3

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. J Inherit Metab Dis. 1992;15(3):371-3. doi: 10.1007/BF02435979. J Inherit Metab Dis. 1992. PMID: 1405472 No abstract available.

4

A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.

Del Valle JA, Garcia MJ, Merinero B, Pérez-Cerdá C, Roman F, Jimenez A, Ugarte M, Martínez-Pardo M, Ludeña C, Camarero C, et al. Del Valle JA, et al. J Inherit Metab Dis. 1984;7(2):62-4. doi: 10.1007/BF01805804. J Inherit Metab Dis. 1984. PMID: 6434827

5

Liver transplantation in nine Spanish patients with tyrosinaemia type I.

Pérez-Cerdá C, Merinero B, Sanz P, Castro M, Gangoiti J, García MJ, Díaz M, Medina E, Ugarte M. Pérez-Cerdá C, et al. J Inherit Metab Dis. 1995;18(2):119-22. doi: 10.1007/BF00711744. J Inherit Metab Dis. 1995. PMID: 7564224 No abstract available.

6

Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.

Pérez-Cerdá C, Rodríguez-Pombo P, Ugarte M. Pérez-Cerdá C, et al. J Inherit Metab Dis. 1994;17(6):661-3. doi: 10.1007/BF00712007. J Inherit Metab Dis. 1994. PMID: 7707688 No abstract available.

7

First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.

Pérez-Cerdá C, Merinero B, Jiménez A, García MJ, Sanz P, Ijlst L, Wanders RJ, Ugarte M. Pérez-Cerdá C, et al. Prenat Diagn. 1993 Jun;13(6):529-33. doi: 10.1002/pd.1970130616. Prenat Diagn. 1993. PMID: 8372080

8

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

9

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.

Merinero B, Pérez-Cerdá C, Garcia MJ, Gangoiti J, Font LM, Garcia Silva MT, Vianey-Saban C, Duran M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 1996;19(2):173-6. doi: 10.1007/BF01799422. J Inherit Metab Dis. 1996. PMID: 8739958 No abstract available.

10

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

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