Ribes A - Search Results

1

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A. Navarro-Sastre A, et al. Among authors: ribes a. Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31. Mol Genet Metab. 2012. PMID: 22980518

2

Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS. Ribes A, et al. J Inherit Metab Dis. 1992;15(3):367-70. doi: 10.1007/BF02435978. J Inherit Metab Dis. 1992. PMID: 1405471 No abstract available.

3

Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

Ribes A, Briones P, Vilaseca MA, Lluch M, Rodes M, Maya A, Campistol J, Pascual P, Suormala T, Baumgartner R. Ribes A, et al. Eur J Pediatr. 1990 Mar;149(6):412-5. doi: 10.1007/BF02009662. Eur J Pediatr. 1990. PMID: 2332011

4

A new case of holocarboxylase synthetase deficiency.

Briones P, Ribes A, Vilaseca MA, Rodríguez-Valcárcel G, Thuy LP, Sweetman L. Briones P, et al. Among authors: ribes a. J Inherit Metab Dis. 1989;12(3):329-30. doi: 10.1007/BF01799228. J Inherit Metab Dis. 1989. PMID: 2515377 No abstract available.

5

[Organic aciduria. Forms of presentation and treatment].

Campistol J, Ribes A. Campistol J, et al. Among authors: ribes a. An Esp Pediatr. 1986 Apr;24(4):232-40. An Esp Pediatr. 1986. PMID: 3729191 Spanish.

6

An atypical French form of pyruvate carboxylase deficiency.

Pineda M, Campistol J, Vilaseca MA, Briones P, Ribes A, Temudo T, Pons M, Cusi V, Rolland MO. Pineda M, et al. Among authors: ribes a. Brain Dev. 1995 Jul-Aug;17(4):276-9. doi: 10.1016/0387-7604(95)00057-i. Brain Dev. 1995. PMID: 7503391

7

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.

Briones P, Garavaglia B, Ribes A, Yoldi ME, Rodés M, Romero C, García-Bragado F. Briones P, et al. Among authors: ribes a. J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777. J Inherit Metab Dis. 1995. PMID: 7564257 No abstract available.

8

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Pons R, Roig M, Riudor E, Ribes A, Briones P, Ortigosa L, Baldellou A, Gil-Gibernau J, Olesti M, Navarro C, Wanders RJ. Pons R, et al. Among authors: ribes a. Pediatr Neurol. 1996 Apr;14(3):236-43. doi: 10.1016/0887-8994(96)00021-5. Pediatr Neurol. 1996. PMID: 8736409 Review.

9

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.

Briones P, Vilaseca MA, Ribes A, Vernet A, Lluch M, Cusi V, Huckriede A, Agsteribbe E. Briones P, et al. Among authors: ribes a. J Inherit Metab Dis. 1997 Aug;20(4):569-77. doi: 10.1023/a:1005303008439. J Inherit Metab Dis. 1997. PMID: 9266394

10

[Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].

Artuch R, Pineda M, Vilaseca MA, Briones P, Ribes A, Colomer J, Vernet A, Campistol J. Artuch R, et al. Among authors: ribes a. Rev Neurol. 1998 Jan;26(149):38-42. Rev Neurol. 1998. PMID: 9533203 Spanish.

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