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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.
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings.
Franco JF, Soares DC, Torres LC, Leal GN, Cunha MT, Honjo RS, Bertola DR, Kim CA.
Franco JF, et al.
Genet Mol Res. 2016 Feb 22;15(1). doi: 10.4238/gmr.15017850.
Genet Mol Res. 2016.
PMID: 26910003
Free article.
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Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays.
Bender F, Burin MG, Tirelli KM, Medeiros F, Bitencourt FH, Civallero G, Kubaski F, Bravo H, Daher A, Carnier V, Franco JFS, Giugliani R.
Bender F, et al. Among authors: franco jfs.
Genet Mol Biol. 2020 May 29;43(2):e20180334. doi: 10.1590/1678-4685-GMB-2018-0334. eCollection 2020.
Genet Mol Biol. 2020.
PMID: 32478793
Free PMC article.
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Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.
Martins L, Lessa LGF, Ali TM, Lazar M, Kim CA, Kantovitz KR, Santamaria MP, Araújo CF, Ramos CJ, Foster BL, Franco JFS, Bertola D, Nociti FH Jr.
Martins L, et al. Among authors: franco jfs.
Int J Mol Sci. 2022 Dec 23;24(1):282. doi: 10.3390/ijms24010282.
Int J Mol Sci. 2022.
PMID: 36613725
Free PMC article.
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