Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

222 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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: feillet 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
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT. Mills PB, et al. Among authors: feillet f. Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16. Brain. 2010. PMID: 20554659 Free PMC article.
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT. Mills PB, et al. Among authors: feillet f. Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18. Brain. 2014. PMID: 24645144 Free PMC article.
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: feillet 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.
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium. Marelli C, et al. Among authors: feillet f. J Inherit Metab Dis. 2021 May;44(3):777-786. doi: 10.1002/jimd.12323. Epub 2020 Nov 2. J Inherit Metab Dis. 2021. PMID: 33089527
Treatment of ARS deficiencies with specific amino acids.
Kok G, Tseng L, Schene IF, Dijsselhof ME, Salomons G, Mendes MI, Smith DEC, Wiedemann A, Canton M, Feillet F, de Koning TJ, Boothe M, Dean J, Kassel R, Ferreira EA, van den Born M, Nieuwenhuis EES, Rehmann H, Terheggen-Lagro SWJ, van Karnebeek CDM, Fuchs SA. Kok G, et al. Among authors: feillet f. Genet Med. 2021 Nov;23(11):2202-2207. doi: 10.1038/s41436-021-01249-z. Epub 2021 Jun 30. Genet Med. 2021. PMID: 34194004 Free PMC article.
Nutritional issues in treating phenylketonuria.
Feillet F, Agostoni C. Feillet F, et al. J Inherit Metab Dis. 2010 Dec;33(6):659-64. doi: 10.1007/s10545-010-9043-4. Epub 2010 Feb 12. J Inherit Metab Dis. 2010. PMID: 20151202 Review.
222 results