一个患有苯丙酮尿症和轻度高苯丙氨酸血症的家族中的智力迟钝。 - Suppr | 超能文献

Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia.

作者信息

Cohen B E, Szeinberg A, Berman W, Aviad Y, Crispin M, Hirshorn N, Goland R

出版信息

Pediatrics. 1969 Nov;44(5):655-60.

Abstract

摘要

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。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia.一个患有苯丙酮尿症和轻度高苯丙氨酸血症的家族中的智力迟钝。

Pediatrics. 1969 Nov;44(5):655-60.

2

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.高苯丙氨酸血症：儿童期各种类型苯丙氨酸羟化酶缺乏症的诊断与分类

Acta Paediatr Scand Suppl. 1980;280:1-80.

3

[A clinico-genealogic analysis of mentally retarded patients with abnormal amino acid metabolism].[对氨基酸代谢异常的智障患者的临床系谱分析]

Zh Nevropatol Psikhiatr Im S S Korsakova. 1975;75(10):1539-43.

4

Incidence of phenylketonuria and other inborn errors of the amino acid metabolism in the normal and mentally retarded population.正常人群和智力发育迟缓人群中苯丙酮尿症及其他先天性氨基酸代谢紊乱的发病率。

Rev Czech Med. 1974;20(1):18-22.

5

Phenylketonuria, a family study. Borderline intelligence in two siblings with mentally retarded children.苯丙酮尿症：一项家族研究。两个患有智力发育迟缓子女的兄弟姐妹存在边缘智力。

Helv Paediatr Acta. 1967 Jul;22(3):243-51.

6

[The relationship between hyperphenylalaninemia and mental retardation].

Zh Nevropatol Psikhiatr Im S S Korsakova. 1975;75(10):1547-51.

7

[Hyperphenylalaninemia and other hyperaminoacidurias with mental retardation, detected by multiple screening].[通过多重筛查检测出的高苯丙氨酸血症及其他伴有智力发育迟缓的高氨基酸尿症]

Cas Lek Cesk. 1972;111(8):176-8.

8

[Evaluation of the activity of a phenylketonuria detection center. Analysis of the results of 500,000 tests].

Presse Med (1893). 1971 Feb 20;79(9):395-7.

9

The use of N-ethyl-N-nitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia.使用N-乙基-N-亚硝基脲制备人类苯丙酮尿症和高苯丙氨酸血症的小鼠模型。

Prog Clin Biol Res. 1990;340C:407-13.

10

Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus.未经治疗的母体苯丙酮尿症和高苯丙氨酸血症对胎儿的影响。

N Engl J Med. 1983 Nov 24;309(21):1269-74. doi: 10.1056/NEJM198311243092101.

引用本文的文献

1

Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.苯丙氨酸羟化酶缺乏症表型不一致家庭的突变分析。高苯丙氨酸血症的遗传与表达。

J Inherit Metab Dis. 1994;17(6):645-51. doi: 10.1007/BF00712004.

2

DNA haplotype analyses of patients with hyperphenylalaninemia.高苯丙氨酸血症患者的DNA单倍型分析。

Am J Hum Genet. 1990 Oct;47(4):706-11.

3

Diseases of phenylalanine metabolism.苯丙氨酸代谢疾病。

West J Med. 1979 Oct;131(4):285-97.