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hyperphenylalaniuemia相关文献:
Guides for tetrahydrobiopterin-responsive hyperphenylalaninemia.
Sakai N.
Pediatr Int. 2021 Jan;63(1):7. doi: 10.1111/ped.14505.
PMID:33486873
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
BH4-deficient hyperphenylalaninemia in Russia.
Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV.
PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021.
PMID:33822819
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
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.
Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2.
PMID:29025426
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
Genetics of Phenylketonuria: Then and Now.
Blau N.
Hum Mutat. 2016 Jun;37(6):508-15. doi: 10.1002/humu.22980. Epub 2016 Mar 18.
PMID:26919687
Cognitive function in untreated subjects with mild hyperphenylalaninemia: a systematic review.
Rostampour N, Chegini R, Hovsepian S, Zamaneh F, Hashemipour M.
Neurol Sci. 2022 Sep;43(9):5593-5603. doi: 10.1007/s10072-022-06194-6. Epub 2022 Jun 21.
PMID:35729439
State-of-the-art 2023 on gene therapy for phenylketonuria.
Martinez M, Harding CO, Schwank G, Thöny B.
J Inherit Metab Dis. 2024 Jan;47(1):80-92. doi: 10.1002/jimd.12651. Epub 2023 Aug 3.
PMID:37401651
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