Ribes A - Search Results

1

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A. García-Villoria J, et al. Among authors: ribes a. Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28. Eur J Hum Genet. 2010. PMID: 20664630 Free PMC article.

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

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.

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

[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.

9

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

10

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. Among authors: ribes a. J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777. J Inherit Metab Dis. 1995. PMID: 7564257 No abstract available.

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