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[Phenylalanine hydroxylase activity in heterozygote hereditary carriers of the phenylketonuria gene].

作者信息

Grimm U, Knapp A, Schlenzka K, Hesse R

出版信息

Acta Biol Med Ger. 1977;36(7-8):1179-82.

PMID:612095
Abstract
摘要

相似文献

1
[Phenylalanine hydroxylase activity in heterozygote hereditary carriers of the phenylketonuria gene].
Acta Biol Med Ger. 1977;36(7-8):1179-82.
2
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
Hum Mutat. 1992;1(5):388-91. doi: 10.1002/humu.1380010507.
3
Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.苯丙酮尿症患者中，相同基因型患者的四氢生物蝶呤反应性存在差异。
Mol Genet Metab. 2001 May;73(1):104-6. doi: 10.1006/mgme.2001.3168.
4
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.苯丙氨酸羟化酶基因中R68G和R68S突变的体外表达分析
Acta Biochim Pol. 2000;47(2):365-9.
5
[Use of modified Ayling's method for detection of homozygotes and heterozygotes for phenylketonuria gene].[改良艾林法用于苯丙酮尿症基因纯合子和杂合子检测]
Vopr Med Khim. 1982 May-Jun;28(3):70-3.
6
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.苯丙酮尿症杂合子中的苯丙氨酸和酪氨酸代谢：不同苯丙氨酸羟化酶突变的影响
J Inherit Metab Dis. 1998 Jun;21(3):236-9. doi: 10.1023/a:1005355802928.
7
[Genetical heterogeneity of phenylketonuria].
Vopr Med Khim. 1982 May-Jun;28(3):62-70.
8
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.在巴西苯丙酮尿症患者中观察到的苯丙氨酸羟化酶基因（PAH）的十个新突变。
Hum Mutat. 2001;17(1):77. doi: 10.1002/1098-1004(2001)17:1<77::AID-HUMU19>3.0.CO;2-S.
9
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.巴勒斯坦阿拉伯人群中苯丙酮尿症和良性高苯丙氨酸血症患者苯丙氨酸羟化酶基因的剪接位点缺陷
Hum Mutat. 1992;1(4):340-3. doi: 10.1002/humu.1380010413.
10
Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.
Hum Mutat. 1994;3(3):312-4. doi: 10.1002/humu.1380030323.

引用本文的文献

1
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.黑色素瘤病例表明苯丙酮尿症/高苯丙氨酸血症突变的携带者频率增加。
Pigment Cell Melanoma Res. 2018 Jul;31(4):529-533. doi: 10.1111/pcmr.12695. Epub 2018 Mar 12.
2
A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients.正常受试者和苯丙酮尿症患者体内苯丙氨酸代谢的模型。
Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):3160-4. doi: 10.1073/pnas.96.6.3160.
3
Neuropsychological and biochemical investigations in heterozygotes for phenylketonuria during ingestion of high dose aspartame (a sweetener containing phenylalanine).
苯丙酮尿症杂合子在摄入高剂量阿斯巴甜（一种含苯丙氨酸的甜味剂）期间的神经心理学和生化研究。
Hum Genet. 1994 Apr;93(4):369-74. doi: 10.1007/BF00201660.
4
[Molecular basis for the heterogeneity of phenylketonuria].[苯丙酮尿症异质性的分子基础]
Naturwissenschaften. 1980 Oct;67(10):495-8. doi: 10.1007/BF01047629.
5
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.
6
The genetic linkage between the PKU locus and the loci for amylase 1, amylase 2, Fy, PGM 1, and Rh and the question of assignment of the PKU locus to chromosome no. 1.苯丙酮尿症基因座与淀粉酶1、淀粉酶2、Fy、磷酸葡萄糖变位酶1和Rh基因座之间的遗传连锁以及将苯丙酮尿症基因座定位于第1号染色体的问题。
Hum Genet. 1982;60(2):122-5. doi: 10.1007/BF00569696.
7
The salience of Garrod's 'molecular groupings' and 'Inborn Factors in Disease'.加罗德的“分子分组”和“疾病中的先天因素”的显著地位。
J Inherit Metab Dis. 1989;12 Suppl 1:9-24. doi: 10.1007/BF01799283.
8
Genetics and biochemistry of the phenylketonuria-present state.
Hum Genet. 1979 Oct 2;51(3):241-5. doi: 10.1007/BF00283389.