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32 results

  1. Nonketotic Hyperglycinemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1357
    ... PubMed : 18201306 ] Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W. Lipoic acid synthesis defects. J ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  2. Carnitine-Acylcarnitine Translocase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK582032
    ... R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  3. MPV17-Related Mitochondrial DNA Maintenance Defect - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK92947
    ... Hoyo P, Martín R, Gort L, Briones P, Ribes A. Lethal hepatopathy and leukodystrophy caused by a ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  4. Canavan Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1234
    ... Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al. The molecular basis ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  5. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria - GeneReviews® ... 
    https://www.ncbi.nlm.nih.gov/books/NBK425223
    ... Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A. Mitochondrial DNA depletion syndrome: new descriptions and ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  6. Short-Chain Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK63582
    ... I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen ... Differential Diagnosis Management Genetic Counseling Resources Molecular Genetics References Chapter Notes Bulk Download Bulk download GeneReviews data ...
  7. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Mennonite ... 
    https://www.ncbi.nlm.nih.gov/books/NBK592267
    ... Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Córdoba SR, Ugarte M, Peñalva MA. ...
  8. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Romani ... 
    https://www.ncbi.nlm.nih.gov/books/NBK583034
    ... Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al. The molecular basis ...
  9. Celiac Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1727
    ... Branski D, Catassi C, Lelgeman M, Maki M, Ribes-Koninckx C, Ventura A, Zimmer KP, et al. ... Differential Diagnosis Management Genetic Counseling Resources Molecular Genetics References Chapter Notes Bulk Download Bulk download GeneReviews data ...
  10. Primary Coenzyme Q10 Deficiency Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK410087
    ... Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L. ... a Proband Management Genetic Counseling Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
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