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Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.
J Pediatr Genet. 2019 Dec;8(4):198-204. doi: 10.1055/s-0039-1697605. Epub 2019 Sep 24.
J Pediatr Genet. 2019.
PMID: 31687257
Free PMC article.
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Velho RV, Ludwig NF, Alegra T, Sperb-Ludwig F, Guarany NR, Matte U, Schwartz IV.
Velho RV, et al. Among authors: guarany nr.
J Hum Genet. 2016 Jun;61(6):555-60. doi: 10.1038/jhg.2016.13. Epub 2016 Mar 3.
J Hum Genet. 2016.
PMID: 26935170
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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Westermann LM, Fleischhauer L, Vogel J, Jenei-Lanzl Z, Ludwig NF, Schau L, Morellini F, Baranowsky A, Yorgan TA, Di Lorenzo G, Schweizer M, de Souza Pinheiro B, Guarany NR, Sperb-Ludwig F, Visioli F, Oliveira Silva T, Soul J, Hendrickx G, Wiegert JS, Schwartz IVD, Clausen-Schaumann H, Zaucke F, Schinke T, Pohl S, Danyukova T.
Westermann LM, et al. Among authors: guarany nr.
Dis Model Mech. 2020 Nov 18;13(11):dmm046425. doi: 10.1242/dmm.046425.
Dis Model Mech. 2020.
PMID: 33023972
Free PMC article.
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Functional capacity evaluation of patients with mucopolysaccharidosis.
Guarany NR, Schwartz IV, Guarany FC, Giugliani R.
Guarany NR, et al.
J Pediatr Rehabil Med. 2012;5(1):37-46. doi: 10.3233/PRM-2012-0194.
J Pediatr Rehabil Med. 2012.
PMID: 22543891
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A double-blind, randomised, crossover trial of two botulinum toxin type a in patients with spasticity.
Guarany FC, Picon PD, Guarany NR, dos Santos AC, Chiella BP, Barone CR, Fendt LC, Schestatsky P.
Guarany FC, et al. Among authors: guarany nr.
PLoS One. 2013;8(2):e56479. doi: 10.1371/journal.pone.0056479. Epub 2013 Feb 28.
PLoS One. 2013.
PMID: 23468866
Free PMC article.
Clinical Trial.
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