Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
作者信息
Leeming R J, Smith I
出版信息
Arch Dis Child. 1979 Feb;54(2):166-7. doi: 10.1136/adc.54.2.166-c.
Abstract
摘要
相似文献
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Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.体外苯丙氨酸羟化酶和二氢蝶啶还原酶活性正常的非典型苯丙酮尿症。
Arch Dis Child. 1979 Feb;54(2):166-7. doi: 10.1136/adc.54.2.166-c.
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Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.由于生物蝶呤缺乏导致的高苯丙氨酸血症。苯丙酮尿症的一种变异形式。
N Engl J Med. 1978 Sep 28;299(13):673-9. doi: 10.1056/NEJM197809282991301.
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Protein deficiency in PKU.苯丙酮尿症中的蛋白质缺乏
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[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.
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Novel aspects of metabolism and function of tetrahydrobiopterin.四氢生物蝶呤代谢与功能的新进展
J Nutr Sci Vitaminol (Tokyo). 1992;Spec No:492-6. doi: 10.3177/jnsv.38.special_492.
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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.
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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。
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本文引用的文献
1
Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.由于生物蝶呤缺乏导致的高苯丙氨酸血症。苯丙酮尿症的一种变异形式。
N Engl J Med. 1978 Sep 28;299(13):673-9. doi: 10.1056/NEJM197809282991301.
2
3
Letter: Biopterin derivatives in atypical phenylketonuria.
Lancet. 1976 Jan 10;1(7950):99-100. doi: 10.1016/s0140-6736(76)90204-x.
4
Letter: New forms of phenylketonuria.信件：苯丙酮尿症的新形式。
Lancet. 1975 Oct 11;2(7937):708. doi: 10.1016/s0140-6736(75)90806-5.
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