Schwartz IV - Search Results

1

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.

Brusius-Facchin AC, De Souza CF, Schwartz IV, Riegel M, Melaragno MI, Correia P, Moraes LM, Llerena J Jr, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: schwartz iv. Am J Med Genet A. 2012 May;158A(5):1055-9. doi: 10.1002/ajmg.a.35271. Epub 2012 Apr 10. Am J Med Genet A. 2012. PMID: 22492741

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. 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

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

4

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, Norato DY, Brum JM, Beesley C, Winchester B, Giugliani R, Hopwood JJ. Matte U, et al. Mol Genet Metab. 2003 Jan;78(1):37-43. doi: 10.1016/s1096-7192(02)00200-7. Mol Genet Metab. 2003. PMID: 12559846

5

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. 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.

6

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: schwartz iv. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x. Clin Genet. 2004. PMID: 15324318

7

Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

Vieira T, Schwartz I, Muñoz V, Pinto L, Steiner C, Ribeiro M, Boy R, Ferraz V, de Paula A, Kim C, Acosta A, Giugliani R. Vieira T, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1741-7. doi: 10.1002/ajmg.a.32320. Am J Med Genet A. 2008. PMID: 18546277

8

A Brazilian galactosialidosis patient given renal transplantation: a case report.

Kiss A, Zen PR, Bittencourt V, Paskulin GA, Giugliani R, d'Azzo A, Schwartz IV. Kiss A, et al. Among authors: schwartz iv. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S205-8. doi: 10.1007/s10545-008-0730-3. Epub 2008 Oct 21. J Inherit Metab Dis. 2008. PMID: 18937050

9

Multidisciplinary management of Hunter syndrome.

Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Muenzer J, et al. Among authors: schwartz iv. Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9. Pediatrics. 2009. PMID: 19901005 Review.

10

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI.

John A, Fagondes S, Schwartz I, Azevedo AC, Barrios P, Dalcin P, Menna-Barreto S, Giugliani R. John A, et al. Am J Med Genet A. 2011 Jul;155A(7):1546-51. doi: 10.1002/ajmg.a.33902. Epub 2011 Jun 2. Am J Med Genet A. 2011. PMID: 21638759

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