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Page 1
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Giugliani R, Barth AL, Dumas MRC, da Silva Franco JF, de Rosso Giuliani L, Grangeiro CHP, Horovitz DDG, Kim CA, de Araújo Leão EKE, de Medeiros PFV, Miguel DSCG, Moreira MESA, Dos Santos HMGP, da Silva LCS, da Silva LR, de Souza IN, Nalin T, Garcia D. Giugliani R, et al. Among authors: nalin t. Orphanet J Rare Dis. 2021 May 22;16(1):238. doi: 10.1186/s13023-021-01870-w. Orphanet J Rare Dis. 2021. PMID: 34022924 Free PMC article. Review.
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.
Monteiro VCL, de Oliveira BM, Dos Santos BB, Sperb-Ludwig F, Refosco LF, Nalin T, Derks TGJ, Moura de Souza CF, Schwartz IVD. Monteiro VCL, et al. Among authors: nalin t. Orphanet J Rare Dis. 2021 Jun 3;16(1):254. doi: 10.1186/s13023-021-01877-3. Orphanet J Rare Dis. 2021. PMID: 34082801 Free PMC article. Clinical Trial.
Maple syrup urine disease in Brazil: a panorama of the last two decades.
Herber S, Schwartz IV, Nalin T, Oliveira Netto CB, Camelo Junior JS, Santos ML, Ribeiro EM, Schüler-Faccini L, Souza CF. Herber S, et al. Among authors: nalin t. J Pediatr (Rio J). 2015 May-Jun;91(3):292-8. doi: 10.1016/j.jped.2014.08.010. Epub 2014 Dec 12. J Pediatr (Rio J). 2015. PMID: 25512172 Free article.
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: nalin t. Mol Genet Genomic Med. 2019 Nov;7(11):e877. doi: 10.1002/mgg3.877. Epub 2019 Sep 11. Mol Genet Genomic Med. 2019. PMID: 31508908 Free PMC article.
Glycogen storage disease type I: clinical and laboratory profile.
Santos BL, Souza CF, Schuler-Faccini L, Refosco L, Epifanio M, Nalin T, Vieira SM, Schwartz IV. Santos BL, et al. Among authors: nalin t. J Pediatr (Rio J). 2014 Nov-Dec;90(6):572-9. doi: 10.1016/j.jped.2014.02.005. Epub 2014 Jul 11. J Pediatr (Rio J). 2014. PMID: 25019649 Free article.
Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases.
Jacoby JT, Bento Dos Santos B, Nalin T, Colonetti K, Farret Refosco L, F M de Souza C, Spritzer PM, Poloni S, Hack-Mendes R, Schwartz IVD. Jacoby JT, et al. Among authors: nalin t. Nutrients. 2021 Aug 27;13(9):2987. doi: 10.3390/nu13092987. Nutrients. 2021. PMID: 34578865 Free PMC article.
25 results