四氢生物蝶呤与“无反应性”二氢蝶啶还原酶缺乏症 - Suppr | 超能文献

Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.

作者信息

Endres W, Ibel H, Kierat L, Blau N, Curtius H C

出版信息

Lancet. 1987 Jul 25;2(8552):223. doi: 10.1016/s0140-6736(87)90813-0.

DOI:10.1016/s0140-6736(87)90813-0

Abstract

摘要

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.四氢生物蝶呤与“无反应性”二氢蝶啶还原酶缺乏症

Lancet. 1987 Jul 25;2(8552):223. doi: 10.1016/s0140-6736(87)90813-0.

2

Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.二氢蝶啶还原酶缺乏症：口服四氢生物蝶呤负荷试验无反应。

J Inherit Metab Dis. 1984;7(2):69-71. doi: 10.1007/BF01805806.

3

Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.接受急性淋巴细胞白血病化疗的儿童中，因二氢蝶啶还原酶缺乏导致的高苯丙氨酸血症。

J Pediatr. 1989 Oct;115(4):661-3. doi: 10.1016/s0022-3476(89)80312-9.

4

A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes.一例红细胞中具有残余活性的轻度二氢蝶啶还原酶缺乏症。

J Inherit Metab Dis. 1984;7(3):135-6. doi: 10.1007/BF01801774.

5

Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.二氢蝶啶还原酶缺乏症中四氢生物蝶呤无反应性与突变蛋白的存在有关。

J Inherit Metab Dis. 1986;9(3):239-43. doi: 10.1007/BF01799654.

6

Tetrahydrobiopterin in dihydropteridine reductase deficiency.

N Engl J Med. 1986 Feb 20;314(8):520-1. doi: 10.1056/nejm198602203140818.

7

Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.二氢蝶啶还原酶缺乏所致高苯丙氨酸血症

Eur J Pediatr. 1978 Sep 8;129(2):93-8. doi: 10.1007/BF00442368.

8

[Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].苯丙氨酸羟化酶活性正常但四氢生物蝶呤和二氢蝶啶还原酶缺乏的高苯丙氨酸血症

Arch Fr Pediatr. 1977 Aug-Sep;34(7 Suppl):CIX-CXX.

9

Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.二氢蝶啶还原酶缺乏所致高苯丙氨酸血症：通过测定尿中氧化型和还原型蝶呤进行诊断。

Pediatrics. 1980 Apr;65(4):806-10.

10

[Malignant hyperphenylalaninemia with dihydropteridine reductase deficiency].[伴有二氢蝶啶还原酶缺乏的恶性高苯丙氨酸血症]

Cesk Pediatr. 1986 Nov;41(11):664-8.

引用本文的文献

1

Abnormalities of biogenic amine metabolism.生物胺代谢异常。

J Inherit Metab Dis. 1993;16(4):676-90. doi: 10.1007/BF00711900.

2

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.通过苯丙氨酸-四氢生物蝶呤联合负荷试验对高苯丙氨酸血症进行鉴别诊断。

Eur J Pediatr. 1993 Aug;152(8):655-61. doi: 10.1007/BF01955242.

3

Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.二氢蝶啶还原酶缺乏症的成功治疗，以及5-羟色氨酸缺乏对睡眠模式的有趣影响。

J Inherit Metab Dis. 1991;14(1):49-52. doi: 10.1007/BF01804388.