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Page 1
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML. Muzetti JH, et al. Among authors: do valle da. Front Endocrinol (Lausanne). 2021 May 21;12:685272. doi: 10.3389/fendo.2021.685272. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34093448 Free PMC article.
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V, Valle DD, Telles BA, Robinson AJ, Monteiro V, Santos MLSF, Souza RLR, Benincá C. Zanette V, et al. Among authors: valle dd. Genet Mol Biol. 2021 Nov 19;44(4):e20210149. doi: 10.1590/1678-4685-GMB-2021-0149. eCollection 2021. Genet Mol Biol. 2021. PMID: 34807224 Free PMC article.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R. Josahkian JA, et al. Among authors: do valle da. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7. Am J Med Genet C Semin Med Genet. 2021. PMID: 33960103
Neurodevelopmental disorder associated with gene ARF3: A case report.
Dos Santos Henrique S, França MJ, Silva Junior RC, Santos MLSF, do Valle DA. Dos Santos Henrique S, et al. Among authors: do valle da. Am J Med Genet A. 2024 May 7:e63658. doi: 10.1002/ajmg.a.63658. Online ahead of print. Am J Med Genet A. 2024. PMID: 38712921
16 results