通过突变筛查对一名临床诊断为Ia型糖原贮积病的17岁男孩进行诊断验证。 - Suppr

Suppr

超能文献

Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening.

作者信息

Matern D, Niederhoff H, Brandis M, Chou J Y

机构信息

University Children's Hospital, Freiburg, Germany.

出版信息

J Inherit Metab Dis. 1996;19(2):205-8. doi: 10.1007/BF01799430.

DOI:10.1007/BF01799430

PMID:8739966

Abstract

摘要

相似文献

Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening.通过突变筛查对一名临床诊断为Ia型糖原贮积病的17岁男孩进行诊断验证。

J Inherit Metab Dis. 1996;19(2):205-8. doi: 10.1007/BF01799430.

Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.突尼斯Ia型糖原贮积病的突变谱：对分子诊断的意义。

J Inherit Metab Dis. 2007 Nov;30(6):989. doi: 10.1007/s10545-007-0737-1. Epub 2007 Nov 19.

Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion.通过限制性内切酶消化对Ia型糖原贮积病进行产前诊断。

Prenat Diagn. 1998 Jun;18(6):629-31.

A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.印度糖原贮积病Ia型患者中葡萄糖-6-磷酸酶基因常见的2个碱基对缺失突变。

J Inherit Metab Dis. 2001 Aug;24(4):517-8. doi: 10.1023/a:1010598109582.

Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.Ia型糖原贮积病的产前诊断，葡萄糖-6-磷酸酶基因出现新突变

Prenat Diagn. 2007 Jul;27(7):685-6. doi: 10.1002/pd.1764.

Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.一名绝经前女性患者患痛风石性痛风，意外诊断为Ia型糖原贮积病：病例报告及文献复习

Clin Rheumatol. 2016 Nov;35(11):2851-2856. doi: 10.1007/s10067-016-3290-1. Epub 2016 May 2.

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.Ia型糖原贮积病：突变分析的最新经验、文献报道的突变总结及新开发的诊断流程图

Eur J Pediatr. 2000 May;159(5):322-30. doi: 10.1007/s004310051281.

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.I型糖原贮积病：诊断及表型/基因型相关性

Eur J Pediatr. 2002 Oct;161 Suppl 1:S10-9. doi: 10.1007/s00431-002-0998-5. Epub 2002 Jul 27.

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.葡萄糖-6-磷酸酶基因的突变谱及其在韩国Ia型糖原贮积病患者分子诊断中的意义。

Clin Genet. 2004 Jun;65(6):487-9. doi: 10.1111/j.1399-0004.2004.00260.x.

A novel mutation in a Brazilian patient with glycogen storage disease type 1a.一名患有1a型糖原贮积病的巴西患者身上发现的一种新型突变。

J Inherit Metab Dis. 1998 Jun;21(4):447. doi: 10.1023/a:1005391600145.

引用本文的文献

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.导致Ia型糖原贮积病的葡萄糖-6-磷酸酶-α（G6PC）基因突变。

Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772.

本文引用的文献

The long-term outcome of patients with glycogen storage disease type Ia.Ia型糖原贮积病患者的长期预后

Eur J Pediatr. 1993;152 Suppl 1:S52-5. doi: 10.1007/BF02072089.

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.导致1a型糖原贮积病的葡萄糖-6-磷酸酶基因突变。

Science. 1993 Oct 22;262(5133):580-3. doi: 10.1126/science.8211187.

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.葡萄糖-6-磷酸酶基因中突变的鉴定，该酶在1a型糖原贮积病中缺乏。

J Clin Invest. 1994 May;93(5):1994-9. doi: 10.1172/JCI117192.

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.葡萄糖-6-磷酸酶基因突变与1a型和1aSP型糖原贮积病相关，但与1b型和1c型无关。

J Clin Invest. 1995 Jan;95(1):234-40. doi: 10.1172/JCI117645.

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.以色列1a型糖原贮积病患者葡萄糖-6-磷酸酶基因突变特征：6名犹太患者存在R83C突变，1名穆斯林阿拉伯患者存在新型V166G突变。

J Inherit Metab Dis. 1995;18(1):21-7. doi: 10.1007/BF00711368.

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.1a型糖原贮积病的遗传基础：葡萄糖-6-磷酸酶基因座的常见突变

Am J Hum Genet. 1995 Oct;57(4):766-71.

Diagnosis of glycogen storage disease.糖原贮积病的诊断。

J Inherit Metab Dis. 1990;13(4):419-34. doi: 10.1007/BF01799499.

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