由于二氢生物蝶呤生物合成受损导致的高苯丙氨酸血症。 - Suppr

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Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis.

作者信息

Tanaka T, Aihara K, Iwai K, Kohashi M, Tomita K, Narisawa K, Arai N, Yoshida H, Usui T

出版信息

Eur J Pediatr. 1981 Jul;136(3):275-80. doi: 10.1007/BF00442994.

DOI:10.1007/BF00442994

PMID:7262099

Abstract

摘要

相似文献

Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis.由于二氢生物蝶呤生物合成受损导致的高苯丙氨酸血症。

Eur J Pediatr. 1981 Jul;136(3):275-80. doi: 10.1007/BF00442994.

Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man.伴有生物蝶呤代谢缺陷的非典型苯丙酮尿症。四氢生物蝶呤或司来吉兰单药治疗、人体生物合成的筛查与研究。

Eur J Pediatr. 1982 Mar;138(2):110-2. doi: 10.1007/BF00441135.

Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.因二氢生物蝶呤生物合成缺陷所致非典型苯丙酮尿症的四氢生物蝶呤治疗

Arch Dis Child. 1978 Aug;53(8):674-6. doi: 10.1136/adc.53.8.674.

Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.由7,8-二氢生物蝶呤合成酶缺乏引起的非典型苯丙酮尿症。

Lancet. 1979 Jan 20;1(8108):131-3. doi: 10.1016/s0140-6736(79)90521-x.

Atypical phenylketonuria due to dihydrobiopterin synthetase deficiency.由于二氢生物蝶呤合成酶缺乏所致的非典型苯丙酮尿症。

Nutr Rev. 1980 Feb;38(2):81-3. doi: 10.1111/j.1753-4887.1980.tb05847.x.

Phenylketonuria with a progressive neurological disorder not responsive to tetrahydrobiopterin.

Acta Paediatr Scand. 1982 Sep;71(5):859-61. doi: 10.1111/j.1651-2227.1982.tb09536.x.

Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.非典型苯丙酮尿症患者的新蝶呤和生物蝶呤水平

J Neurochem. 1980 Oct;35(4):898-904. doi: 10.1111/j.1471-4159.1980.tb07088.x.

Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.由于二氢生物蝶呤合成缺陷导致的恶性苯丙酮尿症。

Isr J Med Sci. 1985 Jun;21(6):520-5.

Protein deficiency in PKU.苯丙酮尿症中的蛋白质缺乏

N Engl J Med. 1979 Jan 25;300(4):198-9. doi: 10.1056/NEJM197901253000415.

Dihydrobiopterin biosynthesis deficiency.二氢生物蝶呤生物合成缺陷

Eur J Pediatr. 1983 Dec;141(2):92-5. doi: 10.1007/BF00496797.

引用本文的文献

Eur J Pediatr. 1982 Mar;138(2):110-2. doi: 10.1007/BF00441135.

Dihydrobiopterin biosynthesis deficiency.二氢生物蝶呤生物合成缺陷

Eur J Pediatr. 1983 Dec;141(2):92-5. doi: 10.1007/BF00496797.

Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.生物蝶呤合成缺陷。左旋多巴和5-羟色氨酸治疗与四氢生物蝶呤治疗的比较

J Clin Invest. 1984 Feb;73(2):458-69. doi: 10.1172/JCI111232.

Hyperphenylalaninaemia due to impaired dihydrobiopterin biosynthesis: leukocyte function and effect of tetrahydrobiopterin therapy.由于二氢生物蝶呤生物合成受损导致的高苯丙氨酸血症：白细胞功能及四氢生物蝶呤治疗的效果

J Inherit Metab Dis. 1985;8(2):49-52. doi: 10.1007/BF01801661.

Successful long term therapy of biopterin deficiency.生物蝶呤缺乏症的成功长期治疗。

J Inherit Metab Dis. 1987;10(3):260-6. doi: 10.1007/BF01800072.

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Int J Neuropharmacol. 1964 Dec;3:643-9. doi: 10.1016/0028-3908(64)90089-9.

A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings.一例因二氢蝶啶还原酶缺乏导致的高苯丙氨酸血症的同胞病例：生化及病理结果

Tohoku J Exp Med. 1980 Oct;132(2):123-31. doi: 10.1620/tjem.132.123.

Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay.二氢蝶啶还原酶缺乏症：通过白细胞酶测定进行诊断。

Clin Chim Acta. 1980 Aug 19;105(3):335-42. doi: 10.1016/0009-8981(80)90113-8.

A method for the determination of serotonin and norepinephrine in discrete areas of rat brain.一种测定大鼠脑离散区域中血清素和去甲肾上腺素的方法。

Int J Neuropharmacol. 1968 May;7(3):275-81. doi: 10.1016/0028-3908(68)90034-8.

Solubilization and partial purification of tyrosine hydroxylase from bovine adrenal medulla.牛肾上腺髓质酪氨酸羟化酶的增溶与部分纯化

J Biol Chem. 1971 Mar 10;246(5):1330-40.

Occurrence of Crithidia factors and folic acid in various bacteria.各种细菌中克氏锥虫因子和叶酸的存在情况。

J Bacteriol. 1970 Oct;104(1):197-201. doi: 10.1128/jb.104.1.197-201.1970.

Rapid method for the determination of 5-hydroxytryptamine and 5-hydroxyindoleacetic acid in small regions of rat brain.大鼠脑小区域中5-羟色胺和5-羟吲哚乙酸的快速测定方法。

Br J Pharmacol. 1970 Jul;39(3):653-5. doi: 10.1111/j.1476-5381.1970.tb10373.x.

Biologically active substances in royal jelly.蜂王浆中的生物活性物质。

Vitam Horm. 1965;23:359-82. doi: 10.1016/s0083-6729(08)60385-4.

In vivo enhancement of tyrosine hydroxylation in rat striatum by tetrahydrobiopterin.四氢生物蝶呤对大鼠纹状体酪氨酸羟化作用的体内增强效应。

Nature. 1974 May 31;249(456):476-8. doi: 10.1038/249476a0.

Partial purification and characterization of tryptophan hydroxylase from rabbit hindbrain.兔后脑色氨酸羟化酶的部分纯化及特性分析

J Biol Chem. 1972 Jul 10;247(13):4165-73.

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