• 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

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.

作者信息

DiSilvestre D, Koch R, Groffen J

出版信息

Am J Hum Genet. 1991 May;48(5):1014-6.

PMID:2018035
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683043/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0072/1683043/c01d223b2a82/ajhg00089-0202-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0072/1683043/058696d4575a/ajhg00089-0201-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0072/1683043/c01d223b2a82/ajhg00089-0202-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0072/1683043/058696d4575a/ajhg00089-0201-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0072/1683043/c01d223b2a82/ajhg00089-0202-a.jpg

相似文献

1
Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.三名具有相同苯丙氨酸羟化酶基因的同胞中高苯丙氨酸血症的不同临床表现。
Am J Hum Genet. 1991 May;48(5):1014-6.
2
A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
Hum Mol Genet. 1993 Jul;2(7):1061-2. doi: 10.1093/hmg/2.7.1061.
3
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.西西里岛苯丙氨酸羟化酶缺乏症的突变谱：对欧洲南部高苯丙氨酸血症诊断的意义。
Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703.
4
Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene.
J Inherit Metab Dis. 1995;18(3):369-70. doi: 10.1007/BF00710439.
5
Mendelian hyperphenylalaninemia.孟德尔型高苯丙氨酸血症
Annu Rev Genet. 1988;22:301-21. doi: 10.1146/annurev.ge.22.120188.001505.
6
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.
7
[Limitations of the classification and nomenclature of hyperphenylalaninemia].[高苯丙氨酸血症的分类与命名的局限性]
Arch Fr Pediatr. 1987;44 Suppl 1:635-8.
8
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.25例丹麦非苯丙酮尿症高苯丙氨酸血症患者的分子异质性
Genomics. 1994 May 15;21(2):453-5. doi: 10.1006/geno.1994.1296.
9
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.荷兰的苯丙酮尿症：93%的突变可通过单链构象分析检测到。
Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351.
10
Origins of hyperphenylalaninemia in Israel.以色列高苯丙氨酸血症的起源。
Eur J Hum Genet. 1994;2(1):24-34. doi: 10.1159/000472338.

引用本文的文献

1
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.一名智力正常的女性的后代中出现典型苯丙酮尿症，表现为母体苯丙酮尿症综合征。
JIMD Rep. 2023 Jul 25;64(5):312-316. doi: 10.1002/jmd2.12384. eCollection 2023 Sep.
2
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.遗传的复杂模式，包括协同杂合性，在先天性代谢缺陷中：对精准医学驱动的诊断和治疗的启示。
Mol Genet Metab. 2019 Sep-Oct;128(1-2):1-9. doi: 10.1016/j.ymgme.2019.07.011. Epub 2019 Jul 19.
3

本文引用的文献

1
Clinical and biochemical observations of patients with atypical phenylketonuria.
Pediatrics. 1970 Jan;45(1):83-92.
2
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.
3
Diagnosis in relationship to treatment of hyperphenylalaninaemia.苯丙酮尿症的诊断与治疗的关系
J Inherit Metab Dis. 1986;9 Suppl 2:178-82. doi: 10.1007/BF01799702.
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.
J Inherit Metab Dis. 2004;27(2):157-63. doi: 10.1023/B:BOLI.0000028782.39513.20.
4
From genotype to phenotype: genetics and medical practice in the new millennium.从基因型到表型：新千年的遗传学与医学实践
Philos Trans R Soc Lond B Biol Sci. 1999 Dec 29;354(1392):1995-2010. doi: 10.1098/rstb.1999.0539.
5
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.人类苯丙氨酸羟化酶突变与高苯丙氨酸血症表型：基因型-表型相关性的荟萃分析
Am J Hum Genet. 1997 Dec;61(6):1309-17. doi: 10.1086/301638.
6
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.
7
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.苯丙酮尿症：健康纯合子后代中R261Q突变和母体苯丙酮尿症的可变表型结果。
J Med Genet. 1993 Apr;30(4):284-8. doi: 10.1136/jmg.30.4.284.
8
Comparison of genotype and intellectual phenotype in untreated PKU patients.未经治疗的苯丙酮尿症患者的基因型与智力表型比较。
J Med Genet. 1993 May;30(5):401-5. doi: 10.1136/jmg.30.5.401.
9
The genetic contribution to the phenotype.遗传因素对表型的影响。
Hum Genet. 1995 Feb;95(2):127-48. doi: 10.1007/BF00209392.
10
PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.挪威苯丙酮尿症的R408Q和F299C突变：单倍型关联、地理分布及表型特征
Hum Genet. 1992 Mar;88(6):608-12. doi: 10.1007/BF02265283.
4
Prenatal diagnosis of classic phenylketonuria by DNA analysis.通过DNA分析对经典型苯丙酮尿症进行产前诊断。
Lancet. 1985 Mar 9;1(8428):549-51. doi: 10.1016/s0140-6736(85)91208-5.
5
Molecular basis and population genetics of phenylketonuria.
Biochemistry. 1989 Jan 10;28(1):1-7. doi: 10.1021/bi00427a001.
6
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.
7
A hypervariable RFLP within the ABR gene.ABR基因内的一个高变限制性片段长度多态性。
Nucleic Acids Res. 1990 Oct 11;18(19):5924. doi: 10.1093/nar/18.19.5924.
8
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.人类苯丙氨酸羟化酶基因座的反复突变、基因转换或重组：法裔加拿大人中的证据及突变目录。
Am J Hum Genet. 1990 May;46(5):970-4.