Giugliani R - Search Results

1

Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.

Rozenberg R, Kok F, Burin MG, Sá Miranda MC, Vasques C, Henriques-Souza AM, Giugliani R, Vainzof M, Pereira LV. Rozenberg R, et al. Among authors: giugliani r. J Child Neurol. 2006 Jun;21(6):540-4. doi: 10.1177/08830738060210061101. J Child Neurol. 2006. PMID: 16948947

2

Glycogen storage disease type Ia: molecular study in Brazilian patients.

de C Reis F, Caldas HC, Norato DY, Schwartz IV, Giugliani R, Burin MG, Sartorato EL. de C Reis F, et al. Among authors: giugliani r. J Hum Genet. 2001;46(3):146-9. doi: 10.1007/s100380170102. J Hum Genet. 2001. PMID: 11310582

3

Protracted course of Krabbe disease in an adult patient bearing a novel mutation.

Jardim LB, Giugliani R, Pires RF, Haussen S, Burin MG, Rafi MA, Wenger DA. Jardim LB, et al. Among authors: giugliani r. Arch Neurol. 1999 Aug;56(8):1014-7. doi: 10.1001/archneur.56.8.1014. Arch Neurol. 1999. PMID: 10448809

4

Genomic analysis of Brazilian patients with Fabry disease.

Pereira FS, Jardim LB, Netto CB, Burin MG, Cecchin C, Giugliani R, Matte US. Pereira FS, et al. Among authors: giugliani r. Braz J Med Biol Res. 2007 Dec;40(12):1599-604. doi: 10.1590/s0100-879x2006005000138. Epub 2007 Oct 29. Braz J Med Biol Res. 2007. PMID: 17713670 Free article.

5

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.

Virgens MY, Siebert M, Bock H, Burin M, Giugliani R, Saraiva-Pereira ML. Virgens MY, et al. Among authors: giugliani r. Gene. 2015 Aug 15;568(1):69-75. doi: 10.1016/j.gene.2015.05.016. Epub 2015 May 9. Gene. 2015. PMID: 25965562

6

Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism.

Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R. Coelho JC, et al. Among authors: giugliani r. Eur J Pediatr. 1997 Aug;156(8):650-4. doi: 10.1007/s004310050685. Eur J Pediatr. 1997. PMID: 9266201

7

Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes.

Burin M, Dutra-Filho C, Brum J, Mauricio T, Amorim M, Giugliani R. Burin M, et al. Among authors: giugliani r. Braz J Med Biol Res. 2000 Sep;33(9):1003-13. doi: 10.1590/s0100-879x2000000900003. Braz J Med Biol Res. 2000. PMID: 10973130 Free article.

8

Epstein-Barr virus-induced transformation of B cells for the diagnosis of genetic metabolic disorders--enumerative conditions for cryopreservation.

Mello AS, Burin MG, Michellin K, Viapiana M, Giugliani R, Coelho JC, Bauer ME. Mello AS, et al. Among authors: giugliani r. Cell Prolif. 2006 Feb;39(1):29-36. doi: 10.1111/j.1365-2184.2006.00363.x. Cell Prolif. 2006. PMID: 16426420 Free PMC article.

9

Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease.

Jardim LB, Gomes I, Netto CB, Nora DB, Matte US, Pereira F, Burin MG, Kalakun L, Giugliani R, Becker J. Jardim LB, et al. Among authors: giugliani r. J Inherit Metab Dis. 2006 Oct;29(5):653-9. doi: 10.1007/s10545-006-0339-3. Epub 2006 Jul 27. J Inherit Metab Dis. 2006. PMID: 16972173

10

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

Schwartz I, Silva LR, Leistner S, Todeschini LA, Burin MG, Pina-Neto JM, Islam RM, Shah GN, Sly WS, Giugliani R. Schwartz I, et al. Among authors: giugliani r. Clin Genet. 2003 Aug;64(2):172-5. doi: 10.1034/j.1399-0004.2003.00119.x. Clin Genet. 2003. PMID: 12859417 No abstract available.

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