Rodriguez-Pombo P - Search Results

1

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Arribas-Carreira L, et al. Among authors: rodriguez pombo p. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.

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

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.

5

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.

6

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.

7

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

8

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.

9

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

10

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.

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