Ribes A - Search Results

1

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.

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

Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Ribes A, Riudor E, Navarro C, Boronat M, Marti M, Hale DE. Ribes A, et al. J Inherit Metab Dis. 1992;15(2):278-9. doi: 10.1007/BF01799642. J Inherit Metab Dis. 1992. PMID: 1527994 No abstract available.

4

Liver transplantation in two children with tyrosinaemia type I: biochemical aspects.

Riudor E, Ribes A, Lloret J, Friden J, Holme E, Jakobs C, Martinez Ibanez V. Riudor E, et al. Among authors: ribes a. J Inherit Metab Dis. 1991;14(3):281-4. doi: 10.1007/BF01811682. J Inherit Metab Dis. 1991. PMID: 1770775 No abstract available.

5

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.

6

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

7

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.

8

Requirement of high biotin doses in a case of biotinidase deficiency.

Riudor E, Vilaseca MA, Briones P, Ribes A, Suñé J, Martorell R, Macaya A, Roig M, Ballabriga A. Riudor E, et al. Among authors: ribes a. J Inherit Metab Dis. 1989;12(3):338-9. doi: 10.1007/BF01799233. J Inherit Metab Dis. 1989. PMID: 2515382 No abstract available.

9

Methylmalonic aciduria with homocystinuria.

Ribes A, Vilaseca MA, Briones P, Maya A, Sabater J, Pascual P, Alvarez L, Ros J, Gonzalez Pascual E. Ribes A, et al. J Inherit Metab Dis. 1984;7 Suppl 2:129-30. doi: 10.1007/978-94-009-5612-4_39. J Inherit Metab Dis. 1984. PMID: 6434865 No abstract available.

10

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

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