Rodríguez-Pombo P - 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. 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

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. Mol Chem Neuropathol. 1992 Feb-Apr;16(1-2):33-44. doi: 10.1007/BF03159959. Mol Chem Neuropathol. 1992. PMID: 1520405

3

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

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

4

Atypical nonketotic hyperglycinemia with a defective glycine transport system in nervous tissue.

Mayor F Jr, Martin A, Rodriguez-Pombo P, Garcia MJ, Benavides J, Ugarte M. Mayor F Jr, et al. Neurochem Pathol. 1984-1985 Winter;2(4):233-49. Neurochem Pathol. 1984. PMID: 6537469

5

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.

6

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.

Hoenicka J, Rodríguez-Pombo P, Pérez-Cerdá C, Muro S, Richard E, Ugarte M. Hoenicka J, et al. Hum Mutat. 1998;Suppl 1:S234-6. doi: 10.1002/humu.1380110175. Hum Mutat. 1998. PMID: 9452096 No abstract available.

7

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

Pérez-Cerdá C, Merinero B, Martí M, Cabrera JC, Peña L, García MJ, Gangoiti J, Sanz P, Rodríguez-Pombo P, Hoenicka J, Richard E, Muro S, Ugarte M. Pérez-Cerdá C, et al. Eur J Pediatr. 1998 Jan;157(1):50-2. doi: 10.1007/s004310050765. Eur J Pediatr. 1998. PMID: 9461363

8

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M. Rodríguez-Pombo P, et al. Am J Hum Genet. 1998 Aug;63(2):360-9. doi: 10.1086/301970. Am J Hum Genet. 1998. PMID: 9683601 Free PMC article.

9

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

Muro S, Rodríguez-Pombo P, Pérez B, Pérez-Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M. Muro S, et al. Hum Mutat. 1999;14(1):89-90. doi: 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5. Hum Mutat. 1999. PMID: 10447268

10

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA. Ugarte M, et al. Hum Mutat. 1999;14(4):275-82. doi: 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N. Hum Mutat. 1999. PMID: 10502773 Review.

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