Ribes A - Search Results

1

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F. Iacobazzi V, et al. Among authors: ribes a. Hum Mutat. 2004 Oct;24(4):312-20. doi: 10.1002/humu.20085. Hum Mutat. 2004. PMID: 15365988

2

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.

3

Pyroglutamic aciduria and nephropathic cystinosis.

Rizzo C, Ribes A, Pastore A, Dionisi-Vici C, Greco M, Rizzoni G, Federici G. Rizzo C, et al. Among authors: ribes a. J Inherit Metab Dis. 1999 May;22(3):224-6. doi: 10.1023/a:1005545012776. J Inherit Metab Dis. 1999. PMID: 10384373 No abstract available.

4

Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A. Busquets C, et al. Among authors: ribes a. Mol Genet Metab. 2000 Nov;71(3):535-7. doi: 10.1006/mgme.2000.3082. Mol Genet Metab. 2000. PMID: 11073722

5

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

Wightman PJ, Santer R, Ribes A, Dougherty F, McGill N, Thorburn DR, FitzPatrick DR. Wightman PJ, et al. Among authors: ribes a. Hum Mutat. 2003 Oct;22(4):288-300. doi: 10.1002/humu.10264. Hum Mutat. 2003. PMID: 12955715

6

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A. Tort F, et al. Among authors: ribes a. Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31058414

7

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. Among authors: ribes a. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093

8

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

Arrabal L, Muñoz-Pujol G, Medina Martínez I, Gort L, García-Villoria J, Roldán S, Tort F, Ribes A. Arrabal L, et al. Among authors: ribes a. Int J Mol Sci. 2023 Aug 1;24(15):12319. doi: 10.3390/ijms241512319. Int J Mol Sci. 2023. PMID: 37569695 Free PMC article.

9

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.

García-Silva MT, Campos Y, Ribes A, Briones P, Cabello A, Santos Borbujo J, Arenas J, Garavaglia B. García-Silva MT, et al. Among authors: ribes a. J Pediatr. 1994 Nov;125(5 Pt 1):843-4. J Pediatr. 1994. PMID: 7965445 No abstract available.

10

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Pons R, Roig M, Riudor E, Ribes A, Briones P, Ortigosa L, Baldellou A, Gil-Gibernau J, Olesti M, Navarro C, Wanders RJ. Pons R, et al. Among authors: ribes a. Pediatr Neurol. 1996 Apr;14(3):236-43. doi: 10.1016/0887-8994(96)00021-5. Pediatr Neurol. 1996. PMID: 8736409 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

254 results

Search Page

Filters