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Page 1
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
Horovitz DD, Acosta AX, Giugliani R, Hlavatá A, Hlavatá K, Tchan MC, Lopes Barth A, Cardoso L Jr, Embiruçu de Araújo Leão EK, Esposito AC, Kyosen SO, De Souza CF, Martins AM. Horovitz DD, et al. Orphanet J Rare Dis. 2016 Apr 29;11(1):51. doi: 10.1186/s13023-016-0437-8. Orphanet J Rare Dis. 2016. PMID: 27129473 Free PMC article.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Among authors: de souza cfm. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.
Pinheiro FC, Sperb-Ludwig F, Ligabue-Braun R, Schüler-Faccini L, de Souza CFM, Vairo F, Schwartz IVD. Pinheiro FC, et al. Among authors: de souza cfm. Gene. 2019 May 30;699:102-109. doi: 10.1016/j.gene.2019.03.007. Epub 2019 Mar 9. Gene. 2019. PMID: 30858132
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R. Josahkian JA, et al. Among authors: de siqueira acm, de medeiros pfv, de souza cfm. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7. Am J Med Genet C Semin Med Genet. 2021. PMID: 33960103
65 results