Ribes A - Search Results

1

[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.

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

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

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

[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.

8

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.

9

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

10

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A. Busquets C, et al. Among authors: ribes a. Pediatr Res. 2000 Sep;48(3):315-22. doi: 10.1203/00006450-200009000-00009. Pediatr Res. 2000. PMID: 10960496

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