Ribes A - Search Results

1

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: ribes a. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 Free PMC article.

2

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

3

[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.

4

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

5

[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.

6

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.

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

Late-onset form of beta-electron transfer flavoprotein deficiency.

Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. Curcoy A, et al. Among authors: ribes a. Mol Genet Metab. 2003 Apr;78(4):247-9. doi: 10.1016/s1096-7192(03)00024-6. Mol Genet Metab. 2003. PMID: 12706375

9

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

Póo-Argüelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G. Póo-Argüelles P, et al. Among authors: ribes a. J Inherit Metab Dis. 2006 Feb;29(1):220-3. doi: 10.1007/s10545-006-0212-4. J Inherit Metab Dis. 2006. PMID: 16601898

10

Methods for the diagnosis of creatine deficiency syndromes: a comparative study.

Arias A, Ormazabal A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch R, Ribes A. Arias A, et al. Among authors: ribes a. J Neurosci Methods. 2006 Sep 30;156(1-2):305-9. doi: 10.1016/j.jneumeth.2006.03.005. Epub 2006 Apr 18. J Neurosci Methods. 2006. PMID: 16621013

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