L. A. Todeschini

Most-cited papers

1. Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

   I. Schwartz, L. R. Silva, S. Leistner, L. A. Todeschini +6 more

   2003Clinical Genetics14 citations

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

   E. Mattos, M. T. Sanseverino, J. A. Magalhães, J. C. Leite +4 more

   2014Genetics and Molecular Biology8 citations Open access

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3. The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil

   B. Krug, I. V. Schwartz, F. L. de Oliveira, T. Alegra +3 more

   2009Public Health Genomics8 citations

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

   T. Alegra, G. Cury, L. A. Todeschini, I. Schwartz

   2013Journal of Pediatric Endocrinology & Metabolism (JPEM)6 citations

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