leber

For example , in three early-stage clinical trials done a few years ago , the technique was used against a retinal disease called Leber congenital amaurosis .

例如，在几年前完成的三项早期临床试验中，基因疗法技术被用于治疗一种名叫莱伯氏先天性黑蒙症的视网膜疾病。

The therapy , known as Luxturna , is being developed for a subset of patients with a rare inherited disorder known as Leber congenital amaurosis , who number about 6000 in the US , Europe and other markets that Spark hopes to enter .

这种名为Luxturna的疗法，是为部分患有名为“莱伯氏先天性黑蒙”（LCA）的罕见遗传性疾病的患者研发的。在Spark希望进入的美国、欧洲和其他市场，这种患者的数量约为6000人。

Clinical Analysis of 24 Cases of Leber 's Hereditary Optic Neuropathy

Leber遗传性视神经病变24例临床分析

Results and analysis for genetic detecting in Leber 's disease and optic neuropathy of unknown reason

Leber病及病因不明的视神经疾病基因检测结果分析

A Familial Case Report of Leber 's Disease : 5 Generations and 16 Cases

Leber氏病一家族5代16例报告

New primary mutation of mtDNA in Leber ′ s hereditary optic neuropathy

Leber遗传性视神经病变mtDNA新原发突变位点研究

Relationship between Leber hereditary optic neuropathy and 14484 mutation in mtDNA in Chinese

中国人mtDNA14484位点突变与Leber's视神经遗传性疾病

Standing next to her is manager Adam Leber .

她身边站着经理亚当广缘。

A Study on the Fixation Nature in Leber 's Hereditary Optic Neuroretinopathy

Leber氏遗传性视神经病变各期固视性质的临床研究

Objective : To evaluate the effect of mitochondrial DNA 11778 site mutation on Leber 's disease and its clinical feature .

目的为了探讨人线粒体mt-DNA11778位点突变对Leber氏病的发病影响及其临床特点。

Pedigrees of Leber 's hereditary optic neuropathy with 14484 mutation in China

中国Leber遗传性视神经病变14484位点突变的家系分析

Clinical Study on Treatment of Leber Hereditary Optic Neuropathy by Wuzi Yanzong Decoction

五子衍宗汤治疗Leber遗传性视神经病变的临床研究

MtDNA mutation detection in Leber hereditary optic neuropathy families

Leber遗传性视神经病变家系线粒体DNA突变检测

Leber 's hereditary optic neuropathy and cell apoptosis

Leber遗传性视神经病变与细胞凋亡

Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation

线粒体DNA11778突变所致Leber遗传性视神经病变外显率分析

The major types and clinical manifestations of mitochondrial DNA mutations in Chinese patients with Leber 's hereditary optic neuropathy

中国人Leber遗传性视神经病变线粒体DNA突变的主要类型和临床特征

A case report of ischemic amaurosis after hyperbaric oxygenation in Leber ′ s disease

高压氧治疗Leber氏病出现缺血性黑朦一例报告

Three cases ( two pedigrees ) with Leber 's hereditary optic neuroretinopathy were reported .

本文报告Leber's遗传性视神经病变二家系3例。

Detection of mitochondrial DNA and Chinese medicine-discrimination analysis in patients with Leber ′ s hereditary optic neuropathy

Leber遗传性视神经病变患者的线粒体DNA检测及中医辨证分析

Objective To analyze the new primary mutation in Chinese people with Leber ′ s hereditary optic neuropathy ( LHON ) .

目的分析中国Leber遗传性视神经病变（LHON）患者是否存在新的原发突变位点。

Alterations in multifocal visual evoked potentials during the acute phase of Leber 's hereditary optic neuropathy

Leber遗传性视神经病变急性期多焦视觉诱发电位的改变

The Dark Eye Evaluation of the red and green pigment genes in patients with cone dystrophy and Leber congenital amaurosis

锥细胞营养不良与Leber氏黑蒙的色觉基因分析

Effect of Wuzi Yanzong Decoction of mitochondrial DNA mutation ratios in patients with Leber hereditary optic neuropathy

五子衍宗汤对Leber遗传性视神经病变患者线粒体基因突变比率的影响

Objective To preliminarily analyze mitochondrial gene mutations of a five generation LHON ( Leber hereditary optic neuropathy ) pedigree with peculiar expression .

目的探讨一个5代遗传的具有独特表型的Leber遗传性视神经病（LHON）家系的线粒体基因突变。

Objective Leber hereditary optic neuropathy ( LHON ) is a maternally inherited disease characterized by a bilateral optic neuropathy .

目的Leber遗传性视神经病变（Leberhereditaryopticneuropathy，LHON）是一种主要累及视盘黄斑束纤维，导致视神经退行性变的母系遗传性疾病。

Objective To analyze the penetrance of Leber hereditary optic neuropathy ( LHON ) individuals with mitochondrial DNA 11778 mutation in Shanxi .

目的分析山西地区线粒体DNA11778位点突变者外显率。

Detection of mtDNA 11778 ( G → A ) Point Mutation in a Family with Leber 's Hereditary Optic Neuropathy by Site-specific Polymerase Chain Reaction

用位点特异PCR法检测Leber遗传性视神经病家系的mtDNA11778G→A点突变

A study has identified a gene responsible for Leber Congenital Amaurosis ( LCA ), the most common cause of congenital blindness in infants and small children .

最新的一项研究确定了一个与先天性黑朦（LCA），一种婴儿和低龄儿童最常见先天性失明的原因，相关的基因。

Objective : To explore the best analyzed condition of PCR-SSCP in detecting three mtDNA mutation for the patients with Leber hereditary optic neuropathy ( LHON ) .

目的探讨PCR-SSCP技术检测Leber遗传性视神经病变（LHON）线粒体DNA（mtDNA）3个原发突变的最佳分析条件。

Methods : mt-DNA 11778 site mutation was detected by PCR , in 20 patients with optic neuropathy and pedigrees of 6 Leber 's patients investigated .

方法采用等位基因特异聚合酶链反应（PCR）方法检测了20例临床拟视神经萎缩疾病患者的mt-DNA11778位点突变，并对其中mt-DNA11778位点突变的6例患者进行家系调查。