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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 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
[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
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
Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund.
Szypowska A, Franek E, J Grzeszczak W, Zięba M, Filipow W, Kabicz P, Więckowska B, Sykut-Cegielska J, Taybert J.
Pediatr Endocrinol Diabetes Metab. 2020;26(3):118-124. doi: 10.5114/pedm.2020.97464.
PMID:32901468
Phenylketonuria.
[No authors listed]
Br Med J. 1970 Jun 6;2(5709):553.
PMID:5526605
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