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Page 1
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Campanholi DRR, Margutti AVB, Silva WA Jr, Garcia DF, Molfetta GA, Marques AA, Schwartz IVD, Cornejo V, Hamilton V, Castro G, Sperb-Ludwig F, Borges ES, Camelo JS Jr. Campanholi DRR, et al. Among authors: margutti avb. Mol Genet Genomic Med. 2021 May;9(5):e1616. doi: 10.1002/mgg3.1616. Epub 2021 May 6. Mol Genet Genomic Med. 2021. PMID: 33955723 Free PMC article.
Living related versus deceased donor liver transplantation for maple syrup urine disease.
Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS Jr, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA. Feier F, et al. Mol Genet Metab. 2016 Mar;117(3):336-43. doi: 10.1016/j.ymgme.2016.01.005. Epub 2016 Jan 12. Mol Genet Metab. 2016. PMID: 26786177
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB, Silva WA Jr, Garcia DF, de Molfetta GA, Marques AA, Amorim T, Prazeres VMG, Boy da Silva RT, Miura IK, Seda Neto J, Santos ES, Santos MLSF, Lourenço CM, Tonon T, Sperb-Ludwig F, de Souza CFM, Schwartz IVD, Camelo JS Jr. Margutti AVB, et al. Orphanet J Rare Dis. 2020 Nov 1;15(1):309. doi: 10.1186/s13023-020-01590-7. Orphanet J Rare Dis. 2020. PMID: 33131499 Free PMC article.
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.
Scaini G, Tonon T, Moura de Souza CF, Schuck PF, Ferreira GC, Quevedo J, Neto JS, Amorim T, Camelo JS Jr, Margutti AVB, Hencke Tresbach R, Sperb-Ludwig F, Boy R, de Medeiros PFV, Schwartz IVD, Streck EL. Scaini G, et al. Among authors: margutti avb. J Inherit Metab Dis. 2018 May 8. doi: 10.1007/s10545-018-0188-x. Online ahead of print. J Inherit Metab Dis. 2018. PMID: 29740775
Successful domino liver transplantation in maple syrup urine disease using a related living donor.
Feier FH, Miura IK, Fonseca EA, Porta G, Pugliese R, Porta A, Schwartz IV, Margutti AV, Camelo JS Jr, Yamaguchi SN, Taveira AT, Candido H, Benavides M, Danesi V, Guimaraes T, Kondo M, Chapchap P, Neto JS. Feier FH, et al. Braz J Med Biol Res. 2014 Jun;47(6):522-6. doi: 10.1590/1414-431x20143830. Epub 2014 Apr 25. Braz J Med Biol Res. 2014. PMID: 24770567 Free PMC article.