Todeschini LA - Search Results

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The management of Gaucher disease in developing countries: a successful experience in Southern Brazil.

Krug BC, Schwartz IV, Lopes de Oliveira F, Alegra T, Campos Martins NL, Todeschini LA, Picon PD. Krug BC, et al. Among authors: todeschini la. Public Health Genomics. 2010;13(1):27-33. doi: 10.1159/000217793. Epub 2009 May 4. Public Health Genomics. 2010. PMID: 19407439

Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?

Alegra T, Cury G, Todeschini LA, Schwartz IV. Alegra T, et al. Among authors: todeschini la. J Pediatr Endocrinol Metab. 2013;26(9-10):1011-3. doi: 10.1515/jpem-2012-0356. J Pediatr Endocrinol Metab. 2013. PMID: 23729602 No abstract available.

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: todeschini la. 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.

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Mattos EP, Sanseverino MT, Magalhães JA, Leite JC, Félix TM, Todeschini LA, Cavalcanti DP, Schüler-Faccini L. Mattos EP, et al. Among authors: todeschini la. Genet Mol Biol. 2015 Mar;38(1):14-20. doi: 10.1590/S1415-475738120140147. Epub 2014 Mar 17. Genet Mol Biol. 2015. PMID: 25983619 Free PMC article.

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