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Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Stephan BO, Quaio CR, Spolador GM, de Paula AC, Curiati MA, Martins AM, Leal GN, Tenorio A, Finzi S, Chimelo FT, Matas CG, Honjo RS, Bertola DR, Kim CA. Stephan BO, et al. Among authors: quaio cr. Clinics (Sao Paulo). 2022 Jul 23;77:100082. doi: 10.1016/j.clinsp.2022.100082. eCollection 2022. Clinics (Sao Paulo). 2022. PMID: 35882106 Free PMC article.
Lipoid proteinosis: rare case confirmed by ECM1 mutation detection.
Almeida TF, Soares DC, Quaio CR, Honjo RS, Bertola DR, McGrath JA, Kim CA. Almeida TF, et al. Among authors: quaio cr. Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2314-5. doi: 10.1016/j.ijporl.2014.09.025. Epub 2014 Oct 2. Int J Pediatr Otorhinolaryngol. 2014. PMID: 25441608 No abstract available.
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation.
Bastos KLM, Quaio CR, Lima FR, Araújo IM, Araújo CAT, Piazzon FB, Silva IDCGD, Benevides GN, Tannuri AC, Tannuri U, Azevedo RA, Kim CA. Bastos KLM, et al. Among authors: quaio cr. Clin Mol Hepatol. 2019 Mar;25(1):86-91. doi: 10.3350/cmh.2018.0005. Epub 2018 Aug 28. Clin Mol Hepatol. 2019. PMID: 30149691 Free PMC article. No abstract available.
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Quaio CRDC, Ceroni JRM, Pereira MA, Teixeira ACB, Yamada RY, Cintra VP, Perrone E, De França M, Chen K, Minillo RM, Biondo CA, de Mello MRB, Moura LR, do Nascimento ATB, de Oliveira Pelegrino K, de Lima LB, do Amaral Virmond L, Moreno CA, Prota JRM, de Araujo Espolaor JG, Silva TYT, Moraes GHI, de Oliveira GS, Moura LMS, Caraciolo MP, Guedes RLM, Gretschischkin MC, Chazanas PLN, Nakamura CNI, de Souza Reis R, Toledo CM, Lage FSD, de Almeida GB, do Nascimento Júnior JB, Cardoso MA, de Paula Azevedo V, de Almeida TF, Cervato MC, de Oliveira Filho JB. Quaio CRDC, et al. Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6. Hum Genomics. 2023. PMID: 37968704 Free PMC article.
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC, Coelho AVC, Moura LMS, Guedes RLM, Chen K, Ceroni JRM, Minillo RM, Caraciolo MP, Reis RS, de Azevedo BMC, Nobrega MS, Teixeira ACB, Martinelli Lima M, da Mota TR, da Matta MC, Colichio GBC, Roncalho AL, Ferreira AFM, Campilongo GP, Perrone E, Virmond LDA, Moreno CA, Prota JRM, de França M, Cervato MC, de Almeida TF, de Oliveira Filho JB. Quaio CRAC, et al. Front Genet. 2022 Aug 30;13:921324. doi: 10.3389/fgene.2022.921324. eCollection 2022. Front Genet. 2022. PMID: 36147510 Free PMC article.
34 results