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Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
Orphanet J Rare Dis. 2024 Oct 30;19(1):405. doi: 10.1186/s13023-024-03392-7.
Orphanet J Rare Dis. 2024.
PMID: 39478612
Free PMC article.
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.
Fussiger H, Lima PLGSB, Souza PVS, Freua F, Husny ASE, Leão EKEA, Braga-Neto P, Kok F, Lynch DS, Saute JAM, Nóbrega PR.
Fussiger H, et al. Among authors: husny ase.
Clin Genet. 2024 Dec;106(6):721-732. doi: 10.1111/cge.14602. Epub 2024 Aug 5.
Clin Genet. 2024.
PMID: 39099467
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