Giugliani R - Search Results

1

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.

2

Unique frequency of known mutations in Brazilian MPS I patients.

Matte U, Leistner S, Lima L, Schwartz I, Giugliani R. Matte U, et al. Among authors: giugliani r. Am J Med Genet. 2000 Jan 17;90(2):108-9. doi: 10.1002/(sici)1096-8628(20000117)90:2<108::aid-ajmg3>3.0.co;2-y. Am J Med Genet. 2000. PMID: 10607946

3

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: giugliani c, giugliani r. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x. Clin Genet. 2004. PMID: 15324318

4

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

5

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: giugliani r. Clin Genet. 1999 May;55(5):386-7. Clin Genet. 1999. PMID: 10422814 No abstract available.

6

Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Schwartz IVD, Pinto LLC, Breda G, Lima L, Ribeiro MG, Mota JG, Acosta AX, Correia P, Horovitz DDG, Porciuncula CGG, Lipinski-Figueiredo E, Fett-Conte AC, Oliveira Sobrinho RP, Norato DYJ, Paula AC, Kim CA, Duarte AR, Boy R, Leistner-Segal S, Burin MG, Giugliani R. Schwartz IVD, et al. Among authors: giugliani r. J Inherit Metab Dis. 2009 Dec;32(6):732-738. doi: 10.1007/s10545-009-1275-9. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821143

7

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

Petry MF, Nonemacher K, Sebben JC, Schwartz IV, Azevedo AC, Burin MG, de Rezende AR, Kim CA, Giugliani R, Leistner-Segal S. Petry MF, et al. Among authors: giugliani r. J Inherit Metab Dis. 2005;28(6):1027-34. doi: 10.1007/s10545-005-0020-2. J Inherit Metab Dis. 2005. PMID: 16435196

8

Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report.

Burin MG, Ribeiro E, Mari Jd, Schwartz IV, Martins M, Giugliani R. Burin MG, et al. Among authors: giugliani r. Prenat Diagn. 2010 Jan;30(1):89-90. doi: 10.1002/pd.2416. Prenat Diagn. 2010. PMID: 19960448 No abstract available.

9

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: giugliani r. 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

10

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

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