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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T, Sperb-Ludwig F, Lima SE, S Carvalho MR, S Fonseca PA, S Camelo J Jr, M Ribeiro E, F V de Medeiros P, M Lourenço C, F M de Souza C, Boy R, Félix TM, M Bittar C, L C Pinto L, C Neto E, J Blom H, D Schwartz IV. Borsatto T, et al. PLoS One. 2017 May 12;12(5):e0177503. doi: 10.1371/journal.pone.0177503. eCollection 2017. PLoS One. 2017. PMID: 28498829 Free PMC article.
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T, Sperb-Ludwig F, Lima SE, Carvalho MRS, Fonseca PAS, Camelo JS Jr, Ribeiro EM, de Medeiros PFV, Lourenço CM, de Souza CFM, Boy R, Félix TM, Bittar CM, Pinto LLC, Neto EC, Blom HJ, Schwartz IVD. Borsatto T, et al. PLoS One. 2017 Jun 22;12(6):e0180463. doi: 10.1371/journal.pone.0180463. eCollection 2017. PLoS One. 2017. PMID: 28640880 Free PMC article.
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Borsatto T, Sperb-Ludwig F, Pinto LL, Luca GR, Carvalho FL, Souza CF, Medeiros PF, Lourenço CM, Lo Filho R, Neto EC, Bernardi P, Leistner-Segal S, Schwartz IV. Borsatto T, et al. BMC Med Genet. 2014 Sep 1;15:96. doi: 10.1186/s12881-014-0096-3. BMC Med Genet. 2014. PMID: 25174816 Free PMC article.
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S, Sperb-Ludwig F, Borsatto T, Weber Hoss G, Doriqui MJR, Embiruçu EK, Boa-Sorte N, Marques C, Kim CA, Fischinger Moura de Souza C, Rocha H, Ribeiro M, Steiner CE, Moreno CA, Bernardi P, Valadares E, Artigalas O, Carvalho G, Wanderley HYC, Kugele J, Walter M, Gallego-Villar L, Blom HJ, Schwartz IVD. Poloni S, et al. Among authors: borsatto t. Mol Genet Genomic Med. 2018 Mar;6(2):160-170. doi: 10.1002/mgg3.342. Epub 2018 Jan 20. Mol Genet Genomic Med. 2018. PMID: 29352562 Free PMC article.