Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

254 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Arias A, Corbella M, Fons C, Sempere A, García-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pàmpols T, Salomons GS, Ribes A, Artuch R. Arias A, et al. Among authors: ribes a. Clin Biochem. 2007 Nov;40(16-17):1328-31. doi: 10.1016/j.clinbiochem.2007.07.010. Epub 2007 Aug 10. Clin Biochem. 2007. PMID: 17825809
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
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.
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: ribes a. J Inherit Metab Dis. 1989;12(3):338-9. doi: 10.1007/BF01799233. J Inherit Metab Dis. 1989. PMID: 2515382 No abstract available.
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
254 results