Ribes A - Search Results

1

Creatine transporter deficiency in two adult patients with static encephalopathy.

Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J. Sempere A, et al. Among authors: ribes a. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S91-6. doi: 10.1007/s10545-009-1083-2. Epub 2009 Mar 25. J Inherit Metab Dis. 2009. PMID: 19319661 Review.

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

Glutaric aciduria type I: unusual biochemical presentation.

Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Campistol J, et al. Among authors: ribes a. J Pediatr. 1992 Jul;121(1):83-6. doi: 10.1016/s0022-3476(05)82548-x. J Pediatr. 1992. PMID: 1625098

4

[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.

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

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.

8

[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.

9

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.

10

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Among authors: ribes a. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784

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