- ... fatty acids, such as evening primrose, borage, and black currant. See separate listings for these topics.
- ... Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence ... Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A. Mutation analysis of the GCDH gene in ...
- ... free article : PMC1793455 ] [ PubMed : 1819255 ] 11. Calero P, Ribes-Koninckx C, Albiach V, et al. IgA antigliadin ... 43. [ PubMed : 22644741 ] 22. Collado MC, Donat E, Ribes-Koninckx C, et al. Specific duodenal and faecal ...
- ... can result in hypomethioninemia, which can be detrimental [ Ribes et al 1990 , Rossi et al 2001 , De ... Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Newborn screening for homocystinurias and ...
- ... Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. A fatal mitochondrial disease is ... Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P. Dihydrolipoamide dehydrogenase (DLD) deficiency in ...
- ... by gas chromatography-mass spectrometry [ Tavares de Almeida & Ribes 2022 ]; OR Biallelic pathogenic (or likely pathogenic) variants ... 273-90. [ PubMed : 2326294 ] Tavares de Almeida I, Ribes A. Organic acids. In: Blau N, Dionisi Vici ...
- ... PubMed : 31095747 ] Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W. Lipoic acid biosynthesis defects. J ... Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch ...
- ... Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. PDH E(1) ... C, Artuch R, García-Cazorla À, Briones P, Ribes A. Mutations in the lipoyltransferase LIPT1 gene cause ...
- ... Córdoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M, et ... Sallée M, Caillard S, Couzi L, Essig M, Ribes D, Dragon-Durey MA, Bridoux F, Rondeau E, ...
- ... C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H. Newborn screening for ... 403-8. [ PubMed : 25604974 ] Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg ...
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