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Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
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.
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.
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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.
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Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review.
Meira JGC, Magalhães BS, Ferreira IBB, Tavares DF, Kobayashi GS, Leão EKEA.
Meira JGC, et al. Among authors: leao ekea.
Am J Med Genet A. 2021 May;185(5):1569-1574. doi: 10.1002/ajmg.a.62141. Epub 2021 Feb 27.
Am J Med Genet A. 2021.
PMID: 33638286
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Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method.
Andrade MFA, Guimarães ICB, Acosta AX, Leão EKEA, Moreira MIG, Mendes CMC.
Andrade MFA, et al. Among authors: leao ekea.
J Pediatr (Rio J). 2019 Jul-Aug;95(4):475-481. doi: 10.1016/j.jped.2018.05.006. Epub 2018 Jun 27.
J Pediatr (Rio J). 2019.
PMID: 29957247
Free article.
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Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Nascimento RM, Bueno C, Martyn M, Leão EK, Zatz M.
Macedo-Souza LI, et al.
Neurogenetics. 2008 Jul;9(3):225-6. doi: 10.1007/s10048-008-0130-8. Epub 2008 May 8.
Neurogenetics. 2008.
PMID: 18463901
No abstract available.
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