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66 results
  1. ... fatty acids, such as evening primrose, borage, and black currant. See separate listings for these topics.
  2. ... 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 ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... 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 ...
  9. ... 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, ...
  10. ... 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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