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Balbo Piazzon Flavia

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ORCID
0000-0003-1685-2884
Main Referenced Co-authors
Melaragno, Maria Isabel (2)
Meloni, Vera Ayres (2)
Cola, Paula (1)
Dantas, Anelisa Gollo (1)
de Agostinho Júnior, Francisco (1)
Main Referenced Keywords
Genetics (2); Humans (2); Allan-Herndon-Dudley syndrome (1); Brazil (1); CEDNIK syndrome (1);
Main Referenced Disciplines
Neurology (2)
Genetics & genetic processes (2)
Pediatrics (1)

Publications (total 3)

The most downloaded
3 downloads
Olivati, C., Favilla, B. P., Freitas, E. L., Santos, B., Melaragno, M. I., Meloni, V. A., & Balbo Piazzon, F. (2022). Allan-Herndon-Dudley syndrome in a female patient and related mechanisms. Molecular Genetics and Metabolism Reports, 31, 100879. doi:10.1016/j.ymgmr.2022.100879 https://hdl.handle.net/2268/313170

The most cited

3 citations (Scopus®)

Nunes, N., Zamariolli, M., Dantas, A. G., Cola, P., de Agostinho Júnior, F., Balbo Piazzon, F., Meloni, V. A., & Melaragno, M. I. (2022). CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants. European Journal of Medical Genetics, 65 (3), 104440. doi:10.1016/j.ejmg.2022.104440 https://hdl.handle.net/2268/313274

Articles in scientific journals with peer reviewing

de Almeida Duarte, C. M., Balbo Piazzon, F., Rocco, I. S., & de Mello, C. B. (2023). Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria. Jornal de Pediatria, 99 (5), 507 - 513. doi:10.1016/j.jped.2023.04.003
Peer Reviewed verified by ORBi

Olivati, C., Favilla, B. P., Freitas, E. L., Santos, B., Melaragno, M. I., Meloni, V. A., & Balbo Piazzon, F. (2022). Allan-Herndon-Dudley syndrome in a female patient and related mechanisms. Molecular Genetics and Metabolism Reports, 31, 100879. doi:10.1016/j.ymgmr.2022.100879
Peer Reviewed verified by ORBi

Nunes, N., Zamariolli, M., Dantas, A. G., Cola, P., de Agostinho Júnior, F., Balbo Piazzon, F., Meloni, V. A., & Melaragno, M. I. (2022). CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants. European Journal of Medical Genetics, 65 (3), 104440. doi:10.1016/j.ejmg.2022.104440
Peer Reviewed verified by ORBi

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