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classic phenylketonuria相关文献:
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.
Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14.
PMID:32668217
Phenylketonuria and the brain.
Rovelli V, Longo N.
Mol Genet Metab. 2023 May;139(1):107583. doi: 10.1016/j.ymgme.2023.107583. Epub 2023 Apr 15.
PMID:37105048
Phenylketonuria.
Blau N, van Spronsen FJ, Levy HL.
Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0.
PMID:20971365
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA.
Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9.
PMID:35854334
Phenylketonuria.
[No authors listed]
Nat Rev Dis Primers. 2021 May 20;7(1):35. doi: 10.1038/s41572-021-00274-1.
PMID:34017004
Adult phenylketonuria.
Hanley WB.
Am J Med. 2004 Oct 15;117(8):590-5. doi: 10.1016/j.amjmed.2004.03.042.
PMID:15465508
Phenylketonuria.
Koch R, Wenz E.
Annu Rev Nutr. 1987;7:117-35. doi: 10.1146/annurev.nu.07.070187.001001.
PMID:3300729
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR.
Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48.
PMID:21555948
Phenylketonuria grows up.
[No authors listed]
Lancet. 1991 May 25;337(8752):1256-7.
PMID:1674066
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.
Zhou D, Yang R, Huang X, Huang X, Yang X, Mao H, Yang J, Zhao Z.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 16;52(6):683-692. doi: 10.3724/zdxbyxb-2023-0473.
PMID:38105685
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