Burin MG - 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: burin mg. J Child Neurol. 2006 Jun;21(6):540-4. doi: 10.1177/08830738060210061101. J Child Neurol. 2006. PMID: 16948947

2

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: burin mg. Eur J Pediatr. 1997 Aug;156(8):650-4. doi: 10.1007/s004310050685. Eur J Pediatr. 1997. PMID: 9266201

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: burin mg. Arch Neurol. 1999 Aug;56(8):1014-7. doi: 10.1001/archneur.56.8.1014. Arch Neurol. 1999. PMID: 10448809

4

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. 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.

5

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: burin mg. J Hum Genet. 2001;46(3):146-9. doi: 10.1007/s100380170102. J Hum Genet. 2001. PMID: 11310582

6

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: burin mg. 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.

7

Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.

Petry MF, Dieter T, Burin M, Giugliani R, Leistner S. Petry MF, et al. Genet Test. 2003 Winter;7(4):347-9. doi: 10.1089/109065703322783743. Genet Test. 2003. PMID: 15000815

8

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases.

Wajner A, Michelin K, Burin MG, Pires RF, Pereira ML, Giugliani R, Coelho JC. Wajner A, et al. Among authors: burin mg. Clin Biochem. 2004 Oct;37(10):893-7. doi: 10.1016/j.clinbiochem.2004.06.008. Clin Biochem. 2004. PMID: 15369720

9

Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.

Michelin K, Wajner A, de Souza FT, de Mello AS, Burin MG, Pereira ML, Pires RF, Giugliani R, Coelho JC. Michelin K, et al. Among authors: burin mg. Am J Med Genet A. 2005 Jul 1;136(1):58-62. doi: 10.1002/ajmg.a.30787. Am J Med Genet A. 2005. PMID: 15937950

10

[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene].

Politei JM, Pagano MA, Dubrovsky A, Pereira F, Matte U, Burin M, Giugliani R. Politei JM, et al. Rev Neurol. 2005 Oct 16-31;41(8):506-7. Rev Neurol. 2005. PMID: 16224739 Free article. Spanish. No abstract available.

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