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203 results

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Page 1
Bone mineral density is within normal range in most adult phenylketonuria patients.
Lubout CMA, Arrieta Blanco F, Bartosiewicz K, Feillet F, Gizewska M, Hollak C, van der Lee JH, Maillot F, Stepien KM, Wagenmakers MAEM, Welsink-Karssies MM, van Spronsen FJ, Bosch AM. Lubout CMA, et al. Among authors: maillot f. J Inherit Metab Dis. 2020 Mar;43(2):251-258. doi: 10.1002/jimd.12177. Epub 2020 Feb 6. J Inherit Metab Dis. 2020. PMID: 31587319 Free PMC article.
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S. MacDonald A, et al. Among authors: maillot f. Mol Genet Metab. 2015 Dec;116(4):242-51. doi: 10.1016/j.ymgme.2015.10.001. Epub 2015 Oct 9. Mol Genet Metab. 2015. PMID: 26498184
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, de Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Guéant JL, Namour F. Jeannesson-Thivisol E, et al. Among authors: maillot f. Orphanet J Rare Dis. 2015 Dec 15;10:158. doi: 10.1186/s13023-015-0375-x. Orphanet J Rare Dis. 2015. PMID: 26666653 Free PMC article.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Among authors: maillot f. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.
Psychiatric adult-onset of urea cycle disorders: A case-series.
Bigot A, Brunault P, Lavigne C, Feillet F, Odent S, Kaphan E, Thauvin C, Leguy V, Broué P, Tchan MC, Maillot F. Bigot A, et al. Among authors: maillot f. Mol Genet Metab Rep. 2017 Jul 6;12:103-109. doi: 10.1016/j.ymgmr.2017.07.001. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28725569 Free PMC article.
Issues with European guidelines for phenylketonuria - Authors' reply.
van Spronsen FJ, van Wegberg AMJ, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, MacDonald A. van Spronsen FJ, et al. Among authors: maillot f. Lancet Diabetes Endocrinol. 2017 Sep;5(9):683-684. doi: 10.1016/S2213-8587(17)30202-4. Lancet Diabetes Endocrinol. 2017. PMID: 28842159 No abstract available.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: maillot f. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
Tryptophan metabolism in phenylketonuria: A French adult cohort study.
Boulet L, Besson G, Van Noolen L, Faure P; ECOPHEN Study Group; Maillot F, Corne C. Boulet L, et al. Among authors: maillot f. J Inherit Metab Dis. 2020 Sep;43(5):944-951. doi: 10.1002/jimd.12250. Epub 2020 Jun 4. J Inherit Metab Dis. 2020. PMID: 32392388
PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. MacDonald A, et al. Among authors: maillot f. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. Orphanet J Rare Dis. 2020. PMID: 32605583 Free PMC article. Review.
Correction to: PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. MacDonald A, et al. Among authors: maillot f. Orphanet J Rare Dis. 2020 Sep 1;15(1):230. doi: 10.1186/s13023-020-01486-6. Orphanet J Rare Dis. 2020. PMID: 32873338 Free PMC article.
203 results