Schwartz IVD - Search Results

1

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

Félix TM, de Oliveira BM, Artifon M, Carvalho I, Bernardi FA, Schwartz IVD, Saute JA, Ferraz VEF, Acosta AX, Sorte NB, Alves D; RARAS Network group. Félix TM, et al. Among authors: schwartz ivd. Orphanet J Rare Dis. 2022 Feb 24;17(1):84. doi: 10.1186/s13023-022-02254-4. Orphanet J Rare Dis. 2022. PMID: 35209917 Free PMC article.

2

Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma.

Schwartz IV, Felix TM, Riegel M, Schüler-Faccini L. Schwartz IV, et al. Clin Dysmorphol. 2002 Jul;11(3):199-202. doi: 10.1097/00019605-200207000-00010. Clin Dysmorphol. 2002. PMID: 12072801

3

Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease.

Gomes I, Nora DB, Becker J, Ehlers JA, Schwartz IV, Giugliani R, Ashton-Prolla P, Jardim L. Gomes I, et al. J Neurol Sci. 2003 Oct 15;214(1-2):21-5. doi: 10.1016/s0022-510x(03)00172-2. J Neurol Sci. 2003. PMID: 12972384

4

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. J Inherit Metab Dis. 2005;28(6):1027-34. doi: 10.1007/s10545-005-0020-2. J Inherit Metab Dis. 2005. PMID: 16435196

5

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II.

Pinto LL, Schwartz IV, Puga AC, Vieira TA, Munoz MV, Giugliani R. Pinto LL, et al. J Pediatr (Rio J). 2006 Jul-Aug;82(4):273-8. doi: 10.2223/JPED.1512. J Pediatr (Rio J). 2006. PMID: 16912829

6

A clinical study of 77 patients with mucopolysaccharidosis type II.

Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, Norato DY, Paula AC, Kim CA, Duarte AR, Boy R, Valadares E, De Michelena M, Mabe P, Martinhago CD, Pina-Neto JM, Kok F, Leistner-Segal S, Burin MG, Giugliani R. Schwartz IV, et al. Acta Paediatr. 2007 Apr;96(455):63-70. doi: 10.1111/j.1651-2227.2007.00212.x. Acta Paediatr. 2007. PMID: 17391446

7

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength.

Cardoso-Santos A, Azevedo AC, Fagondes S, Burin MG, Giugliani R, Schwartz IV. Cardoso-Santos A, et al. J Pediatr (Rio J). 2008 Mar-Apr;84(2):130-5. doi: 10.2223/JPED.1743. Epub 2008 Mar 18. J Pediatr (Rio J). 2008. PMID: 18338089

8

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. 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

9

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Pinto LL, Vieira TA, Giugliani R, Schwartz IV. Pinto LL, et al. Orphanet J Rare Dis. 2010 May 28;5:14. doi: 10.1186/1750-1172-5-14. Orphanet J Rare Dis. 2010. PMID: 20509947 Free PMC article. Review.

10

Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.

Boy R, Schwartz IV, Krug BC, Santana-da-Silva LC, Steiner CE, Acosta AX, Ribeiro EM, Galera MF, Leivas PG, Braz M. Boy R, et al. J Med Ethics. 2011 Apr;37(4):233-9. doi: 10.1136/jme.2010.037150. Epub 2011 Jan 25. J Med Ethics. 2011. PMID: 21266385

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