西班牙苯丙酮尿症患者群体中的表型分布及相关基因型 - Suppr

Suppr

超能文献

Phenotype distribution in the Spanish phenylketonuria population and related genotypes.

作者信息

Martínez-Pardo M, Colmenares A R, García M J, Pérez B, Desviat L R, Ugarte M

机构信息

Hospital Ramón y Cajal, Madrid, Spain.

出版信息

J Inherit Metab Dis. 1994;17(3):366-8. doi: 10.1007/BF00711832.

DOI:10.1007/BF00711832

PMID:7807955

Abstract

摘要

相似文献

Phenotype distribution in the Spanish phenylketonuria population and related genotypes.西班牙苯丙酮尿症患者群体中的表型分布及相关基因型

J Inherit Metab Dis. 1994;17(3):366-8. doi: 10.1007/BF00711832.

Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.西班牙苯丙酮尿症异质群体中突变基因型与生化表型的关系。

Eur J Hum Genet. 1997 Jul-Aug;5(4):196-202.

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.西班牙南部苯丙酮尿症患者的分子流行病学和基因型-表型相关性。

J Hum Genet. 2013 May;58(5):279-84. doi: 10.1038/jhg.2013.16. Epub 2013 Mar 21.

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

J Inherit Metab Dis. 1994;17(3):377-8. doi: 10.1007/BF00711839.

[Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].苯丙酮尿症患者苯丙氨酸羟化酶基因型与生化表型的相关性

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):635-41. doi: 10.3760/cma.j.issn.1003-9406.2012.06.003.

Cognitive development related to metabolic phenotype and mutation genotype in 25 Hungarian patients with phenylketonuria.25例匈牙利苯丙酮尿症患者认知发育与代谢表型及突变基因型的关系

J Inherit Metab Dis. 1994;17(3):372. doi: 10.1007/BF00711835.

Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.

J Inherit Metab Dis. 1993;16(3):602-4. doi: 10.1007/BF00711693.

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.西班牙苯丙酮尿症患者的分子流行病学、基因型-表型相关性及四氢生物蝶呤反应性

J Hum Genet. 2016 Aug;61(8):731-44. doi: 10.1038/jhg.2016.38. Epub 2016 Apr 28.

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.西班牙苯丙氨酸羟化酶缺乏症的遗传和表型特征：按地区进行的分子调查

Eur J Hum Genet. 1999 Apr;7(3):386-92. doi: 10.1038/sj.ejhg.5200312.

PAH gene mutation analysis in clinical practice--comments on mutation analysis anticipates dietary requirements in phenylketonuria.

Eur J Pediatr. 2000 Oct;159 Suppl 2:S154-5. doi: 10.1007/pl00014382.

引用本文的文献

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.

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.西班牙非苯丙酮尿症高苯丙氨酸血症的分子基础：A403V突变的患病率，一种具有高残余活性的突变

J Inherit Metab Dis. 1996;19(2):227-30. doi: 10.1007/BF01799436.

本文引用的文献

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.西班牙的苯丙酮尿症：限制性片段长度多态性单倍型和连锁突变

Hum Genet. 1993 Oct 1;92(3):254-8. doi: 10.1007/BF00244468.

Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.

J Inherit Metab Dis. 1993;16(3):602-4. doi: 10.1007/BF00711693.

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.苯丙酮尿症及相关高苯丙氨酸血症的分子基础：人类苯丙氨酸羟化酶基因中的突变与多态性

Hum Mutat. 1992;1(1):13-23. doi: 10.1002/humu.1380010104.

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