非典型苯丙酮尿症杂合子。苯丙氨酸羟化酶和转氨酶活性缺乏。 - Suppr

Suppr

超能文献

Atypical phenylketonuric heterozygote. Deficiency in phenylalanine hydroxylase and transaminase activity.

作者信息

Anderson J A, Fisch R, Miller E, Doeden D

出版信息

J Pediatr. 1966 Mar;68(3):351-60. doi: 10.1016/s0022-3476(66)80237-8.

DOI:10.1016/s0022-3476(66)80237-8

PMID:4379218

Abstract

摘要

相似文献

Atypical phenylketonuric heterozygote. Deficiency in phenylalanine hydroxylase and transaminase activity.非典型苯丙酮尿症杂合子。苯丙氨酸羟化酶和转氨酶活性缺乏。

J Pediatr. 1966 Mar;68(3):351-60. doi: 10.1016/s0022-3476(66)80237-8.

Enzymes involved in phenylalanine metabolism in the human foetus and child.人类胎儿和儿童体内参与苯丙氨酸代谢的酶。

J Clin Pathol. 1973 Sep;26(9):678-83. doi: 10.1136/jcp.26.9.678.

The effect of phenylalanine administration on the activities of phenylalanine hydroxylase, some aminotransferases and decarboxylases in adult rats.苯丙氨酸给药对成年大鼠苯丙氨酸羟化酶、一些转氨酶和脱羧酶活性的影响。

Acta Biochim Pol. 1967;14(2):209-20.

[Aminoacid metabolism disorders in infancy with special reference to phenylketonuria. II. Aminoacid metabolism and general physiopathology of aminoacidopathies].婴儿期氨基酸代谢紊乱，特别提及苯丙酮尿症。II. 氨基酸病的氨基酸代谢与一般生理病理学

Minerva Nipiol. 1970 Jul-Aug;20(4):83-110.

Aromatic amino acid metabolism in the wabbler-lethal mouse.摇摆致死小鼠中的芳香族氨基酸代谢

Biochem Genet. 1969 Jan;2(4):311-8. doi: 10.1007/BF01458492.

Some biochemical changes in hamsters fed excess phenylalanine diets.

Proc Soc Exp Biol Med. 1966 Jul;122(3):750-4. doi: 10.3181/00379727-122-31243.

Atypical phenylketonuria in a family with a phenylketonuric mother.一位患有苯丙酮尿症的母亲的家庭中出现的非典型苯丙酮尿症。

Pediatrics. 1970 Nov;46(5):707-11.

[Metabolism of phenylalanine and tyrosine and regulation by thyroid hormones in albino rat brain].[白化大鼠脑中苯丙氨酸和酪氨酸的代谢及甲状腺激素的调节]

Biokhimiia. 1966 Mar-Apr;31(2):265-9.

[Current problems in the diagnosis and treatment of phenylketonuria].

Pediatria (Bucur). 1973 Jan-Feb;22(1):1-12.

[Study of the metabolism of an enzymatic system in phenylketonuria].[苯丙酮尿症中一种酶系统的代谢研究]

Rev Med Liege. 1966 Jan 1;21(1):1-6.

引用本文的文献

Phenylketonuria. Early detection, diagnosis and treatment.苯丙酮尿症。早期检测、诊断与治疗。

Calif Med. 1966 Jul;105(1):1-7.

Phenylketonuria. Mass screening of newborns in Ireland.苯丙酮尿症。爱尔兰新生儿群体筛查。

Arch Dis Child. 1968 Apr;43(228):141-4. doi: 10.1136/adc.43.228.141.

Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.在一个大城市中通过血浆色谱法（斯克里弗）筛查遗传性代谢疾病。

Br Med J. 1972 Jul 1;3(5817):7-13. doi: 10.1136/bmj.3.5817.7.

Phenylketonuria: a review.苯丙酮尿症：综述

Postgrad Med J. 1970 Jul;46(537):430-6. doi: 10.1136/pgmj.46.537.430.

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.

Set of simple side-room urine tests for detection of inborn errors of metabolism.用于检测先天性代谢缺陷的一组简单床边尿液检测

Br Med J. 1968 Jun 22;2(5607):745-9. doi: 10.1136/bmj.2.5607.745.

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.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验