• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

[Genetic repercussions of the early detection and clinical recovery of children homozygous recessive for a metabolic disorder. Example of phenylketonuria (phenylpyruvic idiocy)].

作者信息

Pfändler U

出版信息

Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg. 1967;42(3-4):93-8.

PMID:5633069
Abstract
摘要

相似文献

1
[Genetic repercussions of the early detection and clinical recovery of children homozygous recessive for a metabolic disorder. Example of phenylketonuria (phenylpyruvic idiocy)].
Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg. 1967;42(3-4):93-8.
2
[The genetic repercussions of early detection and clinical cure of children who are recessive homozygotes for a metabolic disorder. The example of phenylketonuria (phenylpyruvic idiocy)].
J Genet Hum. 1967 Jun;16(1):174-86.
3
Factors determining the birth frequency of recessive conditions-a high frequency of classical phenylketonuria in Ireland.
Ir Med J. 1976 Sep 30;69(15):386-9.
4
[Phenylketonuria. Epidemiological and genealogical studies on its occurrence in the Bern canton in 1966].[苯丙酮尿症。1966年伯尔尼州苯丙酮尿症发病情况的流行病学及系谱学研究]
Psychiatr Clin (Basel). 1968;1(4):219-44.
5
[Frequency of phenylketonuria heterozygotes].[苯丙酮尿症杂合子的频率]
Kinderarztl Prax. 1980 Mar;48(3):121-4.
6
[Dermatologic problems in population genetics].[群体遗传学中的皮肤病问题]
Przegl Dermatol. 1975 Mar-Apr;62(2):265-70.
7
[Relaxation of natural selection: an academic controversy or a future medical problem?].[自然选择的放松：学术争议还是未来医学问题？]
Rev Med Chil. 1974 Feb;102(2):140-3.
8
[Congenital erythroderma ichthyosiforme sicca evaluated from the standpoint of population genetics. I. Approximate determination of the incidence of mutated autosomal recessive gene determining erythroderma ichthyosiforme sicca and the results of its presence in the gene pool of the population in the former province of Bydgoszcz].[从群体遗传学角度评估先天性鱼鳞病样红皮病。I. 确定决定鱼鳞病样红皮病的常染色体隐性突变基因发生率的近似值及其在前比得哥什省人群基因库中的存在结果]
Przegl Dermatol. 1978 Nov-Dec;65(6):643-8.
9
Clinical consequences of heterozygosity for autosomal-recessive diseases.常染色体隐性疾病杂合性的临床后果。
Clin Genet. 1984 May;25(5):381-415.
10
Relatively common mutations of the Bloom syndrome gene in the Japanese population.日本人群中布鲁姆综合征基因相对常见的突变。
Int J Mol Med. 2004 Sep;14(3):439-42.