Ugarte M - Search Results

1

Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.

Muro S, Pérez B, Rodríguez-Pombo P, Desviat LR, Pérez-Cerdá C, Ugarte M. Muro S, et al. Among authors: ugarte m. J Inherit Metab Dis. 2000 Jun;23(4):300-4. doi: 10.1023/a:1005617420460. J Inherit Metab Dis. 2000. PMID: 10896279 No abstract available.

2

Investigation of enzyme defects in children with lactic acidosis.

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

3

A new PKU mutation associated with haplotype 12.

Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Among authors: ugarte m. Hum Mol Genet. 1992 Dec;1(9):765-6. doi: 10.1093/hmg/1.9.765. Hum Mol Genet. 1992. PMID: 1363838 No abstract available.

4

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

5

Primary cultures of astrocytes from rat as a model for biotin deficiency in nervous tissue.

Rodríguez-Pombo P, Sweetman L, Ugarte M. Rodríguez-Pombo P, et al. Among authors: ugarte m. Mol Chem Neuropathol. 1992 Feb-Apr;16(1-2):33-44. doi: 10.1007/BF03159959. Mol Chem Neuropathol. 1992. PMID: 1520405

6

Biotin transport in primary culture of astrocytes: effect of biotin deficiency.

Rodriguez-Pombo P, Ugarte M. Rodriguez-Pombo P, et al. Among authors: ugarte m. J Neurochem. 1992 Apr;58(4):1460-3. doi: 10.1111/j.1471-4159.1992.tb11364.x. J Neurochem. 1992. PMID: 1548480

7

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.

Pérez B, Desviat LR, Die M, Ugarte M. Pérez B, et al. Among authors: ugarte m. Hum Genet. 1992 May;89(3):341-2. doi: 10.1007/BF00220555. Hum Genet. 1992. PMID: 1601425

8

Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis.

Garcia-Muñoz MJ, Belloque J, Merinero B, Pérez-Cerdá C, Sanz P, Ugarte M. Garcia-Muñoz MJ, et al. Among authors: ugarte m. Prenat Diagn. 1989 Jul;9(7):473-6. doi: 10.1002/pd.1970090704. Prenat Diagn. 1989. PMID: 2505247

9

Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.

Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, García MJ, Urbón A, Díaz Recasens J, Ramos C, Ayuso C, Ugarte M. Pérez-Cerdá C, et al. Among authors: ugarte m. J Inherit Metab Dis. 1989;12 Suppl 2:274-6. doi: 10.1007/BF03335396. J Inherit Metab Dis. 1989. PMID: 2512424 No abstract available.

10

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. Among authors: ugarte m. J Inherit Metab Dis. 1984;7(2):62-4. doi: 10.1007/BF01805804. J Inherit Metab Dis. 1984. PMID: 6434827

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