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205 results

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Page 1
Punctate calcifications in lysosomal storage disorders.
Schwartz IVD, Artigalás O, Ries M, Clarke JTR, Giugliani R, Beck M. Schwartz IVD, et al. Clin Dysmorphol. 2009 Jul;18(3):172-177. doi: 10.1097/MCD.0b013e32832a9ed5. Clin Dysmorphol. 2009. PMID: 19339876 No abstract available.
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
de Camargo Pinto LL, Maluf SW, Leistner-Segal S, Zimmer da Silva C, Brusius-Facchin A, Burin MG, Brustolin S, Llerena J, Moraes L, Vedolin L, Schuch A, Giugliani R, Schwartz IV. de Camargo Pinto LL, et al. Am J Med Genet A. 2011 Jan;155A(1):50-7. doi: 10.1002/ajmg.a.33770. Am J Med Genet A. 2011. PMID: 21204210
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Gene. 2013. PMID: 23707223
Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint.
Cavaleiro RM, Pinheiro Md, Pinheiro LR, Tuji FM, Feio Pdo S, de Souza IC, Feio RH, de Almeida SC, Schwartz IV, Giugliani R, Pinheiro JJ, Santana-da-Silva LC. Cavaleiro RM, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Aug;116(2):e141-8. doi: 10.1016/j.oooo.2013.04.021. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013. PMID: 23849382
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Dornelles AD, de Camargo Pinto LL, de Paula AC, Steiner CE, Lourenço CM, Kim CA, Horovitz DD, Ribeiro EM, Valadares ER, Goulart I, Neves de Souza IC, da Costa Neri JI, Santana-da-Silva LC, Silva LR, Ribeiro M, de Oliveira Sobrinho RP, Giugliani R, Schwartz IV. Dornelles AD, et al. Genet Mol Biol. 2014 Mar;37(1):23-9. doi: 10.1590/s1415-47572014000100006. Epub 2013 Feb 28. Genet Mol Biol. 2014. PMID: 24688287 Free PMC article.
Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.
Ferreira Dos Reis M, Pinheiro LR, Pinheiro MDGR, de Almeida HA, Feio PDSQ, de Almeida SC, de Souza ICN, Giugliani R, Schwartz IVD, Cavaleiro RMDS, Pinheiro JJV, da Silva LCS. Ferreira Dos Reis M, et al. Among authors: schwartz ivd. Spec Care Dentist. 2018 May;38(3):176-184. doi: 10.1111/scd.12290. Epub 2018 May 3. Spec Care Dentist. 2018. PMID: 29722897
205 results