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classic phenylketonuria相关文献:
Phenylketonuria.
van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM.
Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0.
PMID:34017006
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
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
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
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: Current Treatments and Future Developments.
Lichter-Konecki U, Vockley J.
Drugs. 2019 Apr;79(5):495-500. doi: 10.1007/s40265-019-01079-z.
PMID:30864096
Phenylketonuria.
[No authors listed]
Nat Rev Dis Primers. 2021 May 20;7(1):35. doi: 10.1038/s41572-021-00274-1.
PMID:34017004
[Early diagnosis of phenylketonuria. Physiopathology of the neuronal damage and therapeutic options].
Campistol Plana J.
Medicina (B Aires). 2019;79 Suppl 3:2-5.
PMID:31603834
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 in three siblings.
de Assis Franco I, Florinda AMDA, Gonçalves FG, Rodrigues MM, Vale TC.
Pract Neurol. 2023 Nov 23;23(6):525-526. doi: 10.1136/pn-2023-003815.
PMID:37487703
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