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In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants.

作者信息

Trefz F K, Bartholomé K, Bickel H, Lutz P, Schmidt H, Seyberth H W

出版信息

J Inherit Metab Dis. 1981;4(2):101-2. doi: 10.1007/BF02263611.

DOI:10.1007/BF02263611
PMID:6790838
Abstract
摘要

相似文献

1
In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants.苯丙酮尿症及其变异型中苯丙氨酸羟化系统的体内残余活性。
J Inherit Metab Dis. 1981;4(2):101-2. doi: 10.1007/BF02263611.
2
Phenylalanine hydroxylation in cultured fibroblasts from patients with phenylketonuria.
Lancet. 1976 Jul 24;2(7978):194. doi: 10.1016/s0140-6736(76)92360-6.
3
Phenylketonuria and its variants.
Adv Hum Genet. 1983;13:217-97. doi: 10.1007/978-1-4615-8342-4_5.
4
A new experimental model of hyperphenylalaninemia in rat. Effect of p-chlorophenylalanine and cotrimoxazole.大鼠高苯丙氨酸血症的一种新实验模型。对氯苯丙氨酸和复方新诺明的作用。
Biochimie. 1977;59(8-9):713-7. doi: 10.1016/s0300-9084(77)80250-2.
5
The phenylalanine hydroxylating system in phenylketonuria and its variants.
Biochem Med. 1976 Feb;15(1):42-54. doi: 10.1016/0006-2944(76)90073-9.
6
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.
7
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.苯丙酮尿症和高苯丙氨酸血症患者苯丙氨酸羟化酶活性的测定。
Pediatr Res. 1975 Dec;9(12):899-903. doi: 10.1203/00006450-197512000-00006.
8
Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment.病例报告:非典型苯丙酮尿症伴严重进行性神经疾病,对饮食治疗无反应。
Arch Dis Child. 1974 Mar;49(3):245. doi: 10.1136/adc.49.3.245-b.
9
[In vivo studies of phenylalanine metabolism].[苯丙氨酸代谢的体内研究]
Lakartidningen. 1974 Mar 20;71(12):1171-2.
10
Penylalanine hydroxylation in phenylketonuria.苯丙酮尿症中的苯丙氨酸羟化作用。
Lancet. 1976 Nov 6;2(7993):1031. doi: 10.1016/s0140-6736(76)90880-1.

引用本文的文献

1
Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.挪威苯丙酮尿症基因型与代谢表型组的相关性。
Eur J Pediatr. 1996 Jul;155(7):554-60. doi: 10.1007/BF01957904.
2
Maternal non-phenylketonuric mild hyperphenylalaninemia.母体非苯丙酮尿症性轻度高苯丙氨酸血症
Eur J Pediatr. 1996 Jul;155 Suppl 1:S20-5. doi: 10.1007/pl00014243.
3
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.通过苯丙氨酸负荷对苯丙氨酸羟化酶基因突变进行体内评估:七种常见突变的特征分析

本文引用的文献

1
Phenylalaninaemia. Differential diagnosis.苯丙酮尿症。鉴别诊断。
Arch Dis Child. 1974 Nov;49(11):835-43. doi: 10.1136/adc.49.11.835.
2
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.苯丙酮尿症和高苯丙氨酸血症患者苯丙氨酸羟化酶活性的测定。
Pediatr Res. 1975 Dec;9(12):899-903. doi: 10.1203/00006450-197512000-00006.
3
Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry.
Eur J Pediatr. 1995 Jul;154(7):551-6. doi: 10.1007/BF02074833.
4
Compound heterozygotes in hyperphenylalaninaemia.高苯丙氨酸血症中的复合杂合子
Hum Genet. 1984;65(4):405-6. doi: 10.1007/BF00291569.
5
Atypical cases of phenylketonuria.苯丙酮尿症的非典型病例。
Eur J Pediatr. 1987;146 Suppl 1:A38-43. doi: 10.1007/BF00442055.
6
Study design and description of patients.研究设计与患者描述。
Eur J Pediatr. 1990;149 Suppl 1:S5-12. doi: 10.1007/BF02126292.
7
Significance of the in vivo deuterated phenylalanine load for long-term phenylalanine tolerance and psycho-intellectual outcome in patients with PKU.体内氘代苯丙氨酸负荷对苯丙酮尿症患者长期苯丙氨酸耐受性及心理智力结局的意义。
Eur J Pediatr. 1990;149 Suppl 1:S25-7. doi: 10.1007/BF02126295.
8
A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.在北欧,一种与高苯丙氨酸血症相关的常见错义突变。
Eur J Pediatr. 1991 Mar;150(5):347-52. doi: 10.1007/BF01955938.
9
Genetic analysis of treated and untreated phenylketonuria in one family.一个家庭中经治疗和未经治疗的苯丙酮尿症的基因分析。
J Med Genet. 1990 Sep;27(9):564-8. doi: 10.1136/jmg.27.9.564.
10
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.非苯丙酮尿症性高苯丙氨酸血症中的复合杂合性:经典苯丙酮尿症突变的作用。
Am J Hum Genet. 1991 Aug;49(2):393-9.
Clin Chim Acta. 1976 Dec;73(3):431-8. doi: 10.1016/0009-8981(76)90144-3.
4
Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.
Clin Chim Acta. 1979 Dec 17;99(3):211-30. doi: 10.1016/0009-8981(79)90264-x.
5
Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.由于四氢生物蝶呤缺乏导致的非典型苯丙酮尿症。四氢生物蝶呤、二氢生物蝶呤和司来吉兰的诊断与治疗。
Clin Chim Acta. 1979 Apr 16;93(2):251-62. doi: 10.1016/0009-8981(79)90097-4.