Burin MG - Search Results

1

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

Kubaski F, Brusius-Facchin AC, Mason RW, Patel P, Burin MG, Michelin-Tirelli K, Kessler RG, Bender F, Leistner-Segal S, Moreno CA, Cavalcanti DP, Giugliani R, Tomatsu S. Kubaski F, et al. Among authors: burin mg. Prenat Diagn. 2017 May;37(5):435-439. doi: 10.1002/pd.5028. Epub 2017 Mar 12. Prenat Diagn. 2017. PMID: 28207930 Free PMC article.

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

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.

Albano LM, Sugayama SS, Bertola DR, Andrade CE, Utagawa CY, Puppi F, Nader HB, Toma L, Coelho J, Leistner S, Burin M, Giugliani R, Chong AK. Albano LM, et al. Rev Hosp Clin Fac Med Sao Paulo. 2000 Nov-Dec;55(6):213-8. doi: 10.1590/s0041-87812000000600004. Rev Hosp Clin Fac Med Sao Paulo. 2000. PMID: 11313661

6

Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients.

Castilhos CD, Mello AS, Burin MG, Guidobono RR, Gotardo S, Giugliani R, Coelho JC. Castilhos CD, et al. Among authors: burin mg. Am J Med Genet A. 2003 Jun 15;119A(3):348-51. doi: 10.1002/ajmg.a.20203. Am J Med Genet A. 2003. PMID: 12784303

7

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.

8

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

9

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. Prenat Diagn. 2004 Aug;24(8):653-7. doi: 10.1002/pd.967. Prenat Diagn. 2004. PMID: 15305357

10

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.

Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Azevedo AC, et al. Among authors: burin mg. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x. Clin Genet. 2004. PMID: 15324318

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