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hyperphenylalaniuemia相关文献:
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
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
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
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
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
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
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
Güttler F.
Acta Paediatr Scand Suppl. 1980;280:1-80.
PMID:7006308
[Research progress on phenotype and genotype of hyperphenylalaninemia].
Chen T, Zhao Z, Jiang P, Shu Q.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2018 May 25;47(3):219-226. doi: 10.3785/j.issn.1008-9292.2018.06.01.
PMID:30226320
Mild hyperphenylalaninemia: to treat or not to treat.
van Spronsen FJ.
J Inherit Metab Dis. 2011 Jun;34(3):651-6. doi: 10.1007/s10545-011-9283-y. Epub 2011 Feb 24.
PMID:21347590
Guide for diagnosis and treatment of hyperphenylalaninemia.
Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H.
Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10.
PMID:33423362
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