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Differential diagnosis of lipoic acid synthesis defects.
Tort F, Ferrer-Cortes X, Ribes A. Tort F, et al. J Inherit Metab Dis. 2016 Nov;39(6):781-793. doi: 10.1007/s10545-016-9975-4. Epub 2016 Sep 1. J Inherit Metab Dis. 2016. PMID: 27586888 Review.
LA is synthesized in a complex multistep process that requires appropriate function of the mitochondrial fatty acid synthesis (mtFASII) and the biogenesis of iron-sulphur (Fe-S) clusters. ...The clinical and biochemical characteristics of patients with LA synthesis defects …
LA is synthesized in a complex multistep process that requires appropriate function of the mitochondrial fatty acid synthesis (mtFASI …
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.
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.
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. J Inherit Metab Dis. 1991;14(3):285-8. doi: 10.1007/BF01811683. J Inherit Metab Dis. 1991. PMID: 1663190 No abstract available.
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. J Inherit Metab Dis. 1991;14(3):281-4. doi: 10.1007/BF01811682. J Inherit Metab Dis. 1991. PMID: 1770775 No abstract available.
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.
A new case of holocarboxylase synthetase deficiency.
Briones P, Ribes A, Vilaseca MA, Rodríguez-Valcárcel G, Thuy LP, Sweetman L. Briones P, et al. J Inherit Metab Dis. 1989;12(3):329-30. doi: 10.1007/BF01799228. J Inherit Metab Dis. 1989. PMID: 2515377 No abstract available.
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. J Inherit Metab Dis. 1989;12(3):338-9. doi: 10.1007/BF01799233. J Inherit Metab Dis. 1989. PMID: 2515382 No abstract available.
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. J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777. J Inherit Metab Dis. 1995. PMID: 7564257 No abstract available.
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.
Ribes A, Riudor E, Valcárel R, Salvá A, Castelló F, Murillo S, Dominguez C, Rötig A, Jakobs C. Ribes A, et al. J Inherit Metab Dis. 1993;16(3):537-40. doi: 10.1007/BF00711675. J Inherit Metab Dis. 1993. PMID: 7609446 No abstract available.
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