Ribes A - Search Results

1

A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.

Ruiz A, García-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A. Ruiz A, et al. Among authors: ribes a. Mol Genet Metab. 2008 Feb;93(2):216-8. doi: 10.1016/j.ymgme.2007.10.003. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024216

2

Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase.

Vilaseca MA, Briones P, Ribes A, Carreras E, Llácer A, Querol J. Vilaseca MA, et al. Among authors: ribes a. J Inherit Metab Dis. 1991;14(3):285-8. doi: 10.1007/BF01811683. J Inherit Metab Dis. 1991. PMID: 1663190 No abstract available.

3

Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Ribes A, Briones P, Vilaseca MA, Baraibar R, Gairi JM. Ribes A, et al. J Inherit Metab Dis. 1990;13(5):752-3. doi: 10.1007/BF01799579. J Inherit Metab Dis. 1990. PMID: 2246860 No abstract available.

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

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

6

[Biotinidase deficiency. Its form of presentation and response to treatment].

Campistol J, Vilaseca MA, Ribes A, Riudor E. Campistol J, et al. Among authors: ribes a. An Esp Pediatr. 1996 Apr;44(4):389-92. An Esp Pediatr. 1996. PMID: 8796946 Review. Spanish. No abstract available.

7

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

8

Increased urine methylmalonic acid excretion in infants with apnoeas.

Artuch R, Calvo M, Ribes A, Camarasa F, Vilaseca MA. Artuch R, et al. Among authors: ribes a. J Inherit Metab Dis. 1998 Feb;21(1):86-7. doi: 10.1023/a:1005383919335. J Inherit Metab Dis. 1998. PMID: 9501280 No abstract available.

9

[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.

10

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi.

Busquets C, Coll MJ, Christensen E, Campistol J, Clusellas N, Vilaseca MA, Ribes A. Busquets C, et al. Among authors: ribes a. J Inherit Metab Dis. 1998 Jun;21(3):243-6. doi: 10.1023/a:1005359920675. J Inherit Metab Dis. 1998. PMID: 9686367 No abstract available.

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