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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: piazzon f. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K. Muntau AC, et al. Among authors: piazzon f. Mol Genet Metab. 2019 May;127(1):1-11. doi: 10.1016/j.ymgme.2019.04.004. Epub 2019 Apr 26. Mol Genet Metab. 2019. PMID: 31103398 Free article. Review.
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms.
Olivati C, Favilla BP, Freitas EL, Santos B, Melaragno MI, Meloni VA, Piazzon F. Olivati C, et al. Among authors: piazzon f. Mol Genet Metab Rep. 2022 May 7;31:100879. doi: 10.1016/j.ymgmr.2022.100879. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782622 Free PMC article.
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. 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.
Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.
Meloni Vde F, Piazzon FB, Soares Mde F, Takeno SS, Christofolini DM, Kulikowski LD, Brunoni D, Melaragno MI. Meloni Vde F, et al. Among authors: piazzon fb. Gene. 2012 Mar 15;496(1):59-62. doi: 10.1016/j.gene.2012.01.007. Epub 2012 Jan 20. Gene. 2012. PMID: 22285927 Free article.
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.
Zanardo ÉA, Dutra RL, Piazzon FB, Dias AT, Novo-Filho GM, Nascimento AM, Montenegro MM, Damasceno JG, Madia FAR, da Costa TVMM, Melaragno MI, Kim CA, Kulikowski LD. Zanardo ÉA, et al. Clinics (Sao Paulo). 2017 Oct;72(9):526-537. doi: 10.6061/clinics/2017(09)02. Clinics (Sao Paulo). 2017. PMID: 29069255 Free PMC article.
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