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2021 | 2 |
2023 | 1 |
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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Genet Mol Biol. 2021 May 14;44(2):e20200281. doi: 10.1590/1678-4685-GMB-2020-0281. eCollection 2021.
Genet Mol Biol. 2021.
PMID: 33999094
Free PMC article.
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Wilke MVMB, de Oliveira BM, Starosta RT, Shinawi M, Lu L, He M, Ma Y, Stoll J, de Souza CFM, de Siqueira ACM, Vieira SMG, Cerski CT, Refosco LF, Schwartz IVD.
Wilke MVMB, et al. Among authors: de siqueira acm.
Biomedicines. 2023 Jan 26;11(2):363. doi: 10.3390/biomedicines11020363.
Biomedicines. 2023.
PMID: 36830903
Free PMC article.
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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: de siqueira acm.
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
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