• 451 Citations
  • 12 Scopus h-Index
20112020

Research output per year

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Research Output

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Review article
2020

Mucopolysaccharidosis type I

Kubaski, F., de Oliveira Poswar, F., Michelin-Tirelli, K., da Silveira Matte, U., Horovitz, D. D., Barth, A. L., Baldo, G., Vairo, F. & Giugliani, R., Jan 1 2020, In : Diagnostics. 10, 3, 161.

Research output: Contribution to journalReview article

Open Access
2019

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease

Vairo, F. P. E., Chwal, B. C., Perini, S., Ferreira, M. A. P., de Freitas Lopes, A. C. & Saute, J. A. M., Jan 2019, In : Molecular genetics and metabolism. 126, 1, p. 6-13 8 p.

Research output: Contribution to journalReview article

10 Scopus citations
2018

Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects

Giugliani, R., Dalla Corte, A., Poswar, F., Vanzella, C., Horovitz, D., Riegel, M., Baldo, G. & Vairo, F., Jul 3 2018, In : Expert Opinion on Orphan Drugs. 6, 7, p. 403-411 9 p.

Research output: Contribution to journalReview article

4 Scopus citations

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS

Giugliani, R., Vairo, F., Kubaski, F., Poswar, F., Riegel, M., Baldo, G. & Saute, J. A., Jan 2018, In : The Lancet Child and Adolescent Health. 2, 1, p. 56-68 13 p.

Research output: Contribution to journalReview article

11 Scopus citations
2017

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis

Dornelles, A. D., Artigalás, O., Da Silva, A. A., Ardila, D. L. V., Alegra, T., Pereira, T. V., E Vairo, F. P. & Schwartz, I. V. D., Aug 2017, In : PloS one. 12, 8, e0184065.

Research output: Contribution to journalReview article

Open Access
10 Scopus citations

Maple syrup urine disease: Mechanisms and management

Blackburn, P. R., Gass, J. M., Pinto e Vairo, F., Farnham, K. M., Atwal, H. K., Macklin, S., Klee, E. W. & Atwal, P. S., Sep 6 2017, In : Application of Clinical Genetics. 10, p. 57-66 10 p.

Research output: Contribution to journalReview article

29 Scopus citations
2016

Emerging drugs for the treatment of mucopolysaccharidoses

Giugliani, R., Federhen, A., Vairo, F., Vanzella, C., Pasqualim, G., Da Silva, L. M. R., Giugliani, L., De Boer, A. P. K., De Souza, C. F. M., Matte, U. & Baldo, G., Jan 2 2016, In : Expert Opinion on Emerging Drugs. 21, 1, p. 9-26 18 p.

Research output: Contribution to journalReview article

25 Scopus citations
2015

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Giugliani, R., Brusius-Facchin, A. C., Moura De Souza, C. F., Civallero, G., Burin, M., Leistner-Segal, S., Baldo, G. & Vairo, F., Feb 1 2015, In : Expert Opinion on Orphan Drugs. 3, 2, p. 141-150 10 p.

Research output: Contribution to journalReview article

5 Scopus citations

Diagnostic and treatment strategies in mucopolysaccharidosis VI

Vairo, F., Federhen, A., Baldo, G., Riegel, M., Burin, M., Leistner-Segal, S. & Giugliani, R., Oct 30 2015, In : Application of Clinical Genetics. 8, p. 245-255 11 p.

Research output: Contribution to journalReview article

Open Access
16 Scopus citations
2012

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis

Alegra, T., Vairo, F., de Souza, M. V., Krug, B. C. & Schwartz, I. V. D., Dec 1 2012, In : Genetics and Molecular Biology. 35, 4 SUPPL., p. 947-954 8 p.

Research output: Contribution to journalReview article

Open Access
27 Scopus citations