Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency. - Suppr | 超能文献

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency.

作者信息

Dhondt J L, Farriaux J P, Boudha A, Largillière C, Ringel J, Roger M M, Leeming R J

出版信息

J Pediatr. 1985 Jun;106(6):954-6. doi: 10.1016/s0022-3476(85)80251-1.

DOI:10.1016/s0022-3476(85)80251-1

Abstract

摘要

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1

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency.

J Pediatr. 1985 Jun;106(6):954-6. doi: 10.1016/s0022-3476(85)80251-1.

2

Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.鸟苷三磷酸环化水解酶I缺乏症：通过常规尿液蝶呤筛查进行早期诊断。

Pediatrics. 1987 Mar;79(3):374-8.

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GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.GTP环化水解酶I缺乏症，一种导致高苯丙氨酸血症并伴有新蝶呤、生物蝶呤、多巴胺和5-羟色胺缺乏以及肌张力减退的新型酶缺陷。

Eur J Pediatr. 1984 Feb;141(4):208-14. doi: 10.1007/BF00572762.

4

Inhibition of GTP cyclohydrolase I by pterins.蝶呤对GTP环化水解酶I的抑制作用。

Biochim Biophys Acta. 1988 Apr 14;965(1):9-15. doi: 10.1016/0304-4165(88)90144-4.

5

Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity.hph-1小鼠突变体的生化缺陷是鸟苷三磷酸环化水解酶活性不足。

J Neurochem. 1988 Feb;50(2):655-7. doi: 10.1111/j.1471-4159.1988.tb02961.x.

6

Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.三磷酸鸟苷环化水解酶I缺乏症：高苯丙氨酸血症的罕见病因。

Turk J Pediatr. 1999 Apr-Jun;41(2):231-7.

7

Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.

J Inherit Metab Dis. 1990;13(6):879-82. doi: 10.1007/BF01800213.

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Interferon-gamma enhances biosynthesis of pterins in peripheral blood mononuclear cells by induction of GTP-cyclohydrolase I activity.干扰素-γ通过诱导鸟苷三磷酸环化水解酶I的活性来增强外周血单个核细胞中蝶呤的生物合成。

J Interferon Res. 1986 Dec;6(6):697-703. doi: 10.1089/jir.1986.6.697.

9

[Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].[恶性高苯丙氨酸血症——四氢生物蝶呤（BH4）缺乏症]

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):493-6.

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[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].[高苯丙氨酸血症患者中四氢生物蝶呤缺乏症的筛查]

Ann Biol Clin (Paris). 2002 Mar-Apr;60(2):165-71.

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Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.常染色体隐性鸟苷三磷酸环化水解酶 I 缺乏症：重新定义表型谱和结局。

Mov Disord Clin Pract. 2024 Sep;11(9):1072-1084. doi: 10.1002/mdc3.14157. Epub 2024 Jul 12.

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The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.研究导致高苯丙氨酸血症的全谱变体，揭示了 PAH 基因中的 10 个新变体。

Metab Brain Dis. 2019 Dec;34(6):1547-1555. doi: 10.1007/s11011-019-00461-w. Epub 2019 Jul 22.

3

Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.

J Inherit Metab Dis. 1990;13(6):879-82. doi: 10.1007/BF01800213.