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Year Number of Results
2012 2
2013 1
2014 2
2015 1
2016 2
2017 2
2018 2
2019 2
2020 3
2021 4
2022 2
2023 2
2024 1

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Page 1
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
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol VD, Darras BT, Abulaban AA, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien YH, Farrar MA, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon FB, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin JH, Vázquez-Costa JF, Walter MC, Wanigasinghe J, Xiong H, Griggs RC, Roy B. Armengol VD, et al. Among authors: piazzon fb. Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15. Neurol Clin Pract. 2024. PMID: 38107546
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.
Post-mortem cytogenomic investigations in patients with congenital malformations.
Dias AT, Zanardo ÉA, Dutra RL, Piazzon FB, Novo-Filho GM, Montenegro MM, Nascimento AM, Rocha M, Madia FA, Costa TV, Milani C, Schultz R, Gonçalves FT, Fridman C, Yamamoto GL, Bertola DR, Kim CA, Kulikowski LD. Dias AT, et al. Among authors: piazzon fb. Exp Mol Pathol. 2016 Aug;101(1):116-23. doi: 10.1016/j.yexmp.2016.07.003. Epub 2016 Jul 20. Exp Mol Pathol. 2016. PMID: 27450648
Sonography of the distal femoral epiphysis in the etiological diagnosis of congenital hypothyroidism.
Freire R, Becalli M, Murad M, Souza R, Souza LP, Pereira KC, Souza L, Main AP, Fracalossi J, Nunes R, Hegner C, Lube D, Bravin C, Giusti MM, Piazzon F, Guerra LFA, Camargo R, Tomimori EK. Freire R, et al. Among authors: piazzon f. J Clin Ultrasound. 2021 Feb;49(2):135-140. doi: 10.1002/jcu.22944. Epub 2020 Nov 13. J Clin Ultrasound. 2021. PMID: 33188529
22 results