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Page 1
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Orphanet J Rare Dis. 2021 May 22;16(1):238. doi: 10.1186/s13023-021-01870-w.
Orphanet J Rare Dis. 2021.
PMID: 34022924
Free PMC article.
Review.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C.
Villela D, et al. Among authors: de rosso giuliani l.
Am J Med Genet A. 2021 Aug;185(8):2335-2344. doi: 10.1002/ajmg.a.62237. Epub 2021 May 14.
Am J Med Genet A. 2021.
PMID: 33988290
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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
Félix TM, de Oliveira BM, Artifon M, Carvalho I, Bernardi FA, Schwartz IVD, Saute JA, Ferraz VEF, Acosta AX, Sorte NB, Alves D; RARAS Network group.
Félix TM, et al.
Orphanet J Rare Dis. 2022 Feb 24;17(1):84. doi: 10.1186/s13023-022-02254-4.
Orphanet J Rare Dis. 2022.
PMID: 35209917
Free PMC article.
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Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children.
Horovitz DDG, Acosta AX, de Rosso Giuliani L, Ribeiro EM.
Horovitz DDG, et al. Among authors: de rosso giuliani l.
Mol Genet Metab Rep. 2015 Sep 30;5:19-25. doi: 10.1016/j.ymgmr.2015.09.002. eCollection 2015 Dec.
Mol Genet Metab Rep. 2015.
PMID: 28649537
Free PMC article.
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