Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
作者信息
Hyland K, Smith I, Leonard J V
出版信息
J Neurol Neurosurg Psychiatry. 1987 Feb;50(2):242. doi: 10.1136/jnnp.50.2.242.
Abstract
摘要
相似文献
1
Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.精氨酸酶、二氢蝶啶还原酶和苯丙氨酸羟化酶缺乏症中的生物蝶呤
J Neurol Neurosurg Psychiatry. 1987 Feb;50(2):242. doi: 10.1136/jnnp.50.2.242.
2
Tetrahydrobiopterin in dihydropteridine reductase deficiency.二氢蝶啶还原酶缺乏症中的四氢生物蝶呤
N Engl J Med. 1986 Feb 20;314(8):520-1. doi: 10.1056/nejm198602203140818.
3
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.
4
Phenylketonuria and its variants.苯丙酮尿症及其变异型。
Ann Clin Lab Sci. 1977 Mar-Apr;7(2):178-85.
5
[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.
6
Phenylketonuria due to a deficiency of dihydropteridine reductase.由于二氢蝶啶还原酶缺乏所致的苯丙酮尿症。
N Engl J Med. 1975 Oct 16;293(16):785-90. doi: 10.1056/NEJM197510162931601.
7
Phenylketonuria and other phenylalanine hydroxylation mutants in man.人类中的苯丙酮尿症及其他苯丙氨酸羟化突变体
Annu Rev Genet. 1980;14:179-202. doi: 10.1146/annurev.ge.14.120180.001143.
8
Enzymology of the phenylalanine-hydroxylating system.
Enzyme. 1987;38(1-4):286-95. doi: 10.1159/000469218.
9
Arginase deficiency and phenylketonuria.精氨酸酶缺乏症和苯丙酮尿症。
J Neurol Neurosurg Psychiatry. 1986 Sep;49(9):1090. doi: 10.1136/jnnp.49.9.1090.
10
Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia.高苯丙氨酸血症患者的肝脏苯丙氨酸羟化酶活性
J Inherit Metab Dis. 1981;4(2):59-60. doi: 10.1007/BF02263590.
本文引用的文献
1
2
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.Guthrie卡片上的血斑可用于高苯丙氨酸血症婴儿的遗传性四氢生物蝶呤缺乏症筛查。
Arch Dis Child. 1984 Jan;59(1):58-61. doi: 10.1136/adc.59.1.58.
3
Impaired neurotransmitter amine metabolism in arginase deficiency.精氨酸酶缺乏症中神经递质胺代谢受损。
J Neurol Neurosurg Psychiatry. 1985 Nov;48(11):1188-9. doi: 10.1136/jnnp.48.11.1188-a.
4
Neurological aspects of biopterin metabolism.生物蝶呤代谢的神经学方面。
Arch Dis Child. 1986 Feb;61(2):130-7. doi: 10.1136/adc.61.2.130.
5
Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome.脑肝肾综合征患者成纤维细胞中极长链（C24 - C26）脂肪酸模式紊乱。
J Inherit Metab Dis. 1985;8(1):5-8. doi: 10.1007/BF01805473.
6
Arginase deficiency and phenylketonuria.精氨酸酶缺乏症和苯丙酮尿症。
J Neurol Neurosurg Psychiatry. 1986 Sep;49(9):1090. doi: 10.1136/jnnp.49.9.1090.
7
Estimation of tetrahydrobiopterin and other pterins in cerebrospinal fluid using reversed-phase high-performance liquid chromatography with electrochemical and fluorescence detection.
J Chromatogr. 1986 Sep 5;381(2):285-94. doi: 10.1016/s0378-4347(00)83594-x.
Zotero 插件