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Page 1
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: briones p. J Inherit Metab Dis. 1989;12(3):338-9. doi: 10.1007/BF01799233. J Inherit Metab Dis. 1989. PMID: 2515382 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.
Biochemical follow-up in late-treated nephropathic cystinosis.
Vilaseca MA, Camacho JA, Briones P, Farré C, Mas A. Vilaseca MA, et al. Among authors: briones p. J Inherit Metab Dis. 1995;18(2):147-50. doi: 10.1007/BF00711751. J Inherit Metab Dis. 1995. PMID: 7564231 No abstract available.
Medium-chain acyl-CoA dehydrogenase deficiency in Spain.
Martínez G, Ribes A, Briones P, Rodés M, Baldellou A, Pineda M, Rodrigo C, Lorente I, García-Silva MT, Riudor E, Jaraba P, Lopez-Casas J, Nuñez-Roldan A. Martínez G, et al. Among authors: briones p. J Inherit Metab Dis. 1998 Aug;21(6):693-4. doi: 10.1023/a:1005461407231. J Inherit Metab Dis. 1998. PMID: 9762615 No abstract available.
143 results