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62 results
  1. ETFB gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/etfb
    ... ETFB Gene and Variant Databases NCBI Gene ClinVar References Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio ...
  2. Disorders of Intracellular Cobalamin Metabolism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1328
    ... Lane Handbook [ Tschudy & Arcara 2012 ] and other common reference ... which can be detrimental [ Ribes et al 1990 , Rossi et al 2001 , De ...
  3. Glutaric Acidemia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546575
    ... 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 ...
  4. List of Excluded Studies - Diagnosis of Celiac Disease - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344449
    ... 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 ...
  5. Dihydrolipoamide Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK220444
    ... 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. References - Varicose Veins in the Legs - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK328021
    ... 4):336–343. [ PubMed : 11991696 ] 252. Solis JV, Ribe L, Portero JL, Rio J. Stripping saphenectomy, CHIVA ... Jul. (NICE Clinical Guidelines, No. 168.) Appendix O, References. PDF version of this title (3.1M) Other ...
  7. Primary Pyruvate Dehydrogenase Complex Deficiency Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK571223
    ... 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. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1424
    ... 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 ...
  9. Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1367
    ... 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. Classic Isovaleric Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK601614
    ... 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 ...
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