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Year | Number of Results |
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1999 | 1 |
2003 | 1 |
2004 | 1 |
2015 | 2 |
2020 | 1 |
2024 | 0 |
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Page 1
Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.
Mol Genet Metab. 1999 Jun;67(2):148-55. doi: 10.1006/mgme.1999.2863.
Mol Genet Metab. 1999.
PMID: 10356314
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
Shintaku H, Kure S, Ohura T, Okano Y, Ohwada M, Sugiyama N, Sakura N, Yoshida I, Yoshino M, Matsubara Y, Suzuki K, Aoki K, Kitagawa T.
Shintaku H, et al.
Pediatr Res. 2004 Mar;55(3):425-30. doi: 10.1203/01.PDR.0000111283.91564.7E. Epub 2003 Dec 17.
Pediatr Res. 2004.
PMID: 14681498
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Mutational spectrum of phenylketonuria in Jiangsu province.
Chen YF, Jia HT, Chen ZH, Song JP, Liang Y, Pei JJ, Wu ZJ, Wang J, Qiu YL, Liu G, Sun DM, Jiang XY.
Chen YF, et al.
Eur J Pediatr. 2015 Oct;174(10):1333-8. doi: 10.1007/s00431-015-2539-z. Epub 2015 Apr 19.
Eur J Pediatr. 2015.
PMID: 25894915
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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.
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.
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The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N.
Hillert A, et al.
Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14.
Am J Hum Genet. 2020.
PMID: 32668217
Free PMC article.
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