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Page 1
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Kubaski F, Burlina A, Pereira D, Silva C, Herbst ZM, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Poletto E, Bernardes TM, Carvalho GS, Sorte NB, Ferreira FN, Perin N, Clivati MR, de Santana MTS, Lobos SFG, Leão EKEA, Coutinho MP, Pinos PV, Santos MLSF, Penatti DA, Lourenço CM, Polo G, Giugliani R. Kubaski F, et al. Among authors: leao ekea. Orphanet J Rare Dis. 2022 Nov 8;17(1):407. doi: 10.1186/s13023-022-02560-x. Orphanet J Rare Dis. 2022. PMID: 36348386 Free PMC article.
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Horovitz DDG, Leão EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, Kerstenetzky M, Siqueira ACM, Ribeiro BFR, Kim CA, Santos FC, Franco JFS, Lichtvan LCL, Giuliani LR, Rodrigues MDCS, Bonatti RCF, Teixeira TB, Gonçalves A, Lourenço CM, Pereira ASS, Acosta AX. Horovitz DDG, et al. Among authors: leao ekea. Mol Genet Metab. 2021 May;133(1):94-99. doi: 10.1016/j.ymgme.2021.02.006. Epub 2021 Feb 27. Mol Genet Metab. 2021. PMID: 33678523 Free article.
Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.
Giugliani R, de Siqueira ACM, Santos ES, Leão EKEA, Carvalho GDS, Santos MLSF, Raskin S, Martins AM. Giugliani R, et al. Among authors: leao ekea. Orphanet J Rare Dis. 2024 Nov 26;19(1):436. doi: 10.1186/s13023-024-03463-9. Orphanet J Rare Dis. 2024. PMID: 39593190 Free PMC article.
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.
Fussiger H, Lima PLGSB, Souza PVS, Freua F, Husny ASE, Leão EKEA, Braga-Neto P, Kok F, Lynch DS, Saute JAM, Nóbrega PR. Fussiger H, et al. Among authors: leao ekea. Clin Genet. 2024 Dec;106(6):721-732. doi: 10.1111/cge.14602. Epub 2024 Aug 5. Clin Genet. 2024. PMID: 39099467
Detection and sequencing of Zika virus in normocephalic newborns with congenital Zika infection.
de Almeida BL, Giovanetti M, Oliveira JV, Carvalho TCX, Figueiredo EM, Pellegrini R, Calcagno JI, Carneiro MW, de Oliveira JMGC, Faiçal AVB, Agra IA, Salles C, Leão EKEA, Lucena R, Acosta AX, Alcantara LCJ, de Siqueira IC. de Almeida BL, et al. Among authors: leao ekea. Int J Infect Dis. 2022 Jan;114:128-131. doi: 10.1016/j.ijid.2021.10.051. Epub 2021 Oct 30. Int J Infect Dis. 2022. PMID: 34728345 Free article.