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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.
Osteopontin: a potential biomarker of Gaucher disease.
Vairo F, Sperb-Ludwig F, Wilke M, Michellin-Tirelli K, Netto C, Neto EC, Schwartz I. Vairo F, et al. Ann Hematol. 2015 Jul;94(7):1119-25. doi: 10.1007/s00277-015-2354-7. Epub 2015 Apr 1. Ann Hematol. 2015. PMID: 25875742
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.
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. 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.
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. 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
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD. Sperb-Ludwig F, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e877. doi: 10.1002/mgg3.877. Epub 2019 Sep 11. Mol Genet Genomic Med. 2019. PMID: 31508908 Free PMC article.
44 results