Burin M - Search Results

1

Non-immune hydrops fetalis: A prospective study of 53 cases.

Moreno CA, Kanazawa T, Barini R, Nomura ML, Andrade KC, Gomes CP, Heinrich JK, Giugliani R, Burin M, Cavalcanti DP. Moreno CA, et al. Among authors: burin m. Am J Med Genet A. 2013 Dec;161A(12):3078-86. doi: 10.1002/ajmg.a.36171. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039125

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

Infantile sialic acid storage disease: report of the first case in South America.

Utagawa CY, Sugayama SM, Ribeiro EM, Bertola DR, Baba ER, Burin MG, Lewis E, Coelho HC, Fensom AH, Marques-Dias MJ, Gonzales CH, Kim CA, Giugliani R. Utagawa CY, et al. Among authors: burin mg. Clin Genet. 1999 May;55(5):386-7. Clin Genet. 1999. PMID: 10422814 No abstract available.

4

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

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

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. Among authors: burin m. 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

7

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. 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

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. Among authors: burin m. 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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