Vairo F - Search Results

1

Pilot study of newborn screening for six lysosomal diseases in Brazil.

Kubaski F, Sousa I, Amorim T, Pereira D, Silva C, Chaves V, Brusius-Facchin AC, Netto ABO, Soares J, Vairo F, Poletto E, Trometer J, Souza A, Ranieri E, Polo G, Hong X, Herbst ZM, Burlina A, Gelb MH, Giugliani R. Kubaski F, et al. Among authors: vairo f. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107654. doi: 10.1016/j.ymgme.2023.107654. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37507255

2

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.

Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giugliani R. Sperb F, et al. Among authors: vairo f. Gene. 2013 Jan 1;512(1):113-6. doi: 10.1016/j.gene.2012.09.106. Epub 2012 Oct 6. Gene. 2013. PMID: 23046582 Free article.

3

Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.

Longo MG, Vairo F, Souza CF, Giugliani R, Vedolin LM. Longo MG, et al. Among authors: vairo f. Neuroimaging Clin N Am. 2015 Feb;25(1):31-51. doi: 10.1016/j.nic.2014.09.004. Neuroimaging Clin N Am. 2015. PMID: 25476511 Review.

4

The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent.

Giugliani R, Baldo G, Vairo F, Lujan Lopez M, Matte U. Giugliani R, et al. Among authors: vairo f. J Community Genet. 2015 Jul;6(3):189-91. doi: 10.1007/s12687-015-0230-8. Epub 2015 May 26. J Community Genet. 2015. PMID: 26007289 Free PMC article.

5

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R. Vairo F, et al. Appl Clin Genet. 2015 Oct 30;8:245-55. doi: 10.2147/TACG.S68650. eCollection 2015. Appl Clin Genet. 2015. PMID: 26586959 Free PMC article. Review.

6

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.

Giugliani R, Vairo FP, Riegel M, de Souza CF, Schwartz IV, Pena SD. Giugliani R, et al. Among authors: vairo fp. Orphanet J Rare Dis. 2016 Jun 10;11(1):76. doi: 10.1186/s13023-016-0458-3. Orphanet J Rare Dis. 2016. PMID: 27282290 Free PMC article. Review.

7

A Case of Early Infantile Pompe Disease with Atypical Manifestation.

de Souza CF, Donnis K, Vairo F, Burim M, Fagondes S, Giugliani R. de Souza CF, et al. Among authors: vairo f. J Neuromuscul Dis. 2015;2(s1):S15. J Neuromuscul Dis. 2015. PMID: 27858613 No abstract available.

8

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS.

Giugliani R, Vairo F, Kubaski F, Poswar F, Riegel M, Baldo G, Saute JA. Giugliani R, et al. Among authors: vairo f. Lancet Child Adolesc Health. 2018 Jan;2(1):56-68. doi: 10.1016/S2352-4642(17)30087-1. Epub 2017 Oct 24. Lancet Child Adolesc Health. 2018. PMID: 30169196 Review.

9

Lysosomal diseases: Overview on current diagnosis and treatment.

Poswar FO, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, Souza CFM, Baldo G, Giugliani R. Poswar FO, et al. Among authors: vairo f. Genet Mol Biol. 2019;42(1 suppl 1):165-177. doi: 10.1590/1678-4685-GMB-2018-0159. Epub 2019 Apr 25. Genet Mol Biol. 2019. PMID: 31067291 Free PMC article.

10

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.

d'Avila Paskulin L, Starosta RT, Zizemer VS, Basgalupp S, Bertholdo D, Vairo FPE, Siebert M, Michelin-Tirelli K, Schwartz IVD. d'Avila Paskulin L, et al. Mol Genet Metab Rep. 2019 Nov 22;21:100544. doi: 10.1016/j.ymgmr.2019.100544. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31799121 Free PMC article.

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