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Mutation analysis in 54 propionic acidemia patients.
Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO. Kraus JP, et al. Among authors: ugarte m. J Inherit Metab Dis. 2012 Jan;35(1):51-63. doi: 10.1007/s10545-011-9399-0. Epub 2011 Oct 27. J Inherit Metab Dis. 2012. PMID: 22033733
Propionic acidemia: unusual course with late onset and fatal outcome.
Lücke T, Pérez-Cerdá C, Baumgartner M, Fowler B, Sander S, Sasse M, Scholl S, Ugarte M, Das AM. Lücke T, et al. Among authors: ugarte m. Metabolism. 2004 Jun;53(6):809-10. doi: 10.1016/j.metabol.2003.12.025. Metabolism. 2004. PMID: 15164333
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M. Pérez B, et al. Among authors: ugarte m. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15. J Inherit Metab Dis. 2010. PMID: 20549364
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. Coughlin CR 2nd, et al. Among authors: ugarte m. Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362913 Free article.
Prenatal diagnosis of propionic acidemia.
Pérez-Cerdá C, Pérez B, Merinero B, Desviat LR, Rodríguez-Pombo P, Ugarte M. Pérez-Cerdá C, et al. Among authors: ugarte m. Prenat Diagn. 2004 Dec 15;24(12):962-4. doi: 10.1002/pd.1057. Prenat Diagn. 2004. PMID: 15614906
358 results