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名词信息
中 文 名:
高苯丙氨酸血症
英 文 名:
hyperphenylalaniuemia
中文又称:
中文曾称:
名词来源:
所属专业:
内分泌科
所属类别:
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Pubmed相关的文献
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
Mendelian hyperphenylalaninemia.
Scriver CR, Kaufman S, Woo SL.
Annu Rev Genet. 1988;22:301-21. doi: 10.1146/annurev.ge.22.120188.001505.
PMID:3071251
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
[Hyperphenylalaninemia].
Matsumura R.
Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):386-8.
PMID:11031976
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
Hyperphenylalaninemia and serotonin deficiency in Dnajc12-deficient mice.
Cao Y, Popp O, Milani N, Qadri F, Kühn R, Mertins P, Bader M, Alenina N.
Commun Biol. 2024 Dec 18;7(1):1641. doi: 10.1038/s42003-024-07360-6.
PMID:39695187
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
Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed.
Thoalnoon OA, Kareem AA, Hammoodi HZ.
Arch Razi Inst. 2023 Apr 30;78(2):667-673. doi: 10.22092/ARI.2022.359480.2431. eCollection 2023 Apr.
PMID:37396747
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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