Schwartz IV - Search Results

1

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

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

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Harmatz P, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Swiedler SJ, Hardy K, Berger KI, Decker C. Harmatz P, et al. Among authors: schwartz iv. J Inherit Metab Dis. 2010 Feb;33(1):51-60. doi: 10.1007/s10545-009-9007-8. Epub 2010 Feb 6. J Inherit Metab Dis. 2010. PMID: 20140523 Free PMC article. Clinical Trial.

9

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

10

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.

Giugliani L, Sitta A, Vargas CR, Santana-da-Silva LC, Nalin T, Saraiva-Pereira ML, Giugliani R, Schwartz IV. Giugliani L, et al. Among authors: schwartz iv. J Pediatr (Rio J). 2011 May-Jun 8;87(3):245-51. doi: 10.2223/JPED.2090. J Pediatr (Rio J). 2011. PMID: 21660367 English, Portuguese.

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