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A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Biomedicines. 2023 Jan 26;11(2):363. doi: 10.3390/biomedicines11020363.
Biomedicines. 2023.
PMID: 36830903
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: 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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