Giugliani R - Search Results

1

Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.

Giugliani R. Giugliani R. J Inherit Metab Dis. 2012 Sep;35(5):871-7. doi: 10.1007/s10545-011-9436-z. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231381

2

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.

Burin MG, Scholz AP, Gus R, Sanseverino MT, Fritsh A, Magalhães JA, Timm F, Barrios P, Chesky M, Coelho JC, Giugliani R. Burin MG, et al. Among authors: giugliani r. Prenat Diagn. 2004 Aug;24(8):653-7. doi: 10.1002/pd.967. Prenat Diagn. 2004. PMID: 15305357

3

The Latin-American network of human genetics.

Giugliani R, Matte U. Giugliani R, et al. Community Genet. 2004;7(2-3):74-5. doi: 10.1159/000080775. Community Genet. 2004. PMID: 15539821

4

Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis.

Camelo JS Jr, Fernandes MI, Maciel LM, Scrideli CA, Santos JL, Camargo AS Jr, Passador CS, Leite PC, Resende DR, de Souza LO, Giugliani R, Jorge SM. Camelo JS Jr, et al. Among authors: giugliani r. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S141-9. doi: 10.1007/s10545-009-1112-1. Epub 2009 May 4. J Inherit Metab Dis. 2009. PMID: 19418240

5

Inborn errors of metabolism in Latin America: challenges and opportunities.

Giugliani R. Giugliani R. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S315-20. doi: 10.1007/s10545-010-9112-8. Epub 2010 May 8. J Inherit Metab Dis. 2010. PMID: 20454860

6

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.

Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV. Artigalás O, et al. Among authors: giugliani r. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S257-62. doi: 10.1007/s10545-010-9140-4. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596894

7

Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases.

Matte U, Lagranha VL, de Carvalho TG, Mayer FQ, Giugliani R. Matte U, et al. Among authors: giugliani r. J Inherit Metab Dis. 2011 Oct;34(5):983-90. doi: 10.1007/s10545-011-9350-4. Epub 2011 May 26. J Inherit Metab Dis. 2011. PMID: 21614584 Review.

8

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.

Azevedo AC, Artigalás O, Vedolin L, Komlós M, Pires A, Giugliani R, Schwartz IV. Azevedo AC, et al. Among authors: giugliani r. J Inherit Metab Dis. 2013 Mar;36(2):357-62. doi: 10.1007/s10545-012-9559-x. Epub 2012 Nov 21. J Inherit Metab Dis. 2013. PMID: 23179553

9

Look carefully to the heels! A potentially treatable cause of spastic paraplegia.

Saute JA, Giugliani R, Merkens LS, Chiang JP, DeBarber AE, de Souza CF. Saute JA, et al. Among authors: giugliani r. J Inherit Metab Dis. 2015 Mar;38(2):363-4. doi: 10.1007/s10545-014-9745-0. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112387 No abstract available.

10

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

Giugliani R, Brusius-Facchin AC, Pasqualim G, Leistner-Segal S, Riegel M, Matte U. Giugliani R, et al. Expert Rev Mol Diagn. 2016;16(1):113-23. doi: 10.1586/14737159.2016.1121101. Epub 2015 Dec 9. Expert Rev Mol Diagn. 2016. PMID: 26567866 Review.

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