肾上腺脑白质营养不良

材料和方法：回顾性分析16例临床证实的肾上腺脑白质营养不良患者的CT和MR影像；

Materials and Method : Retrospectively analyzed CT and MR features of 16 cases of ALD proved clinically .

目的估价桥延脑皮质脊髓束受累在肾上腺脑白质营养不良（ALD）的影像诊断上的特殊价值。

Purpose To determine the specific effect of pontomedullary involvement in the diagnosis of ALD on MR images .

在基因组DNA水平，应用基因突变分析的方法对肾上腺脑白质营养不良进行分子诊断十分重要。

The molecular diagnosis for X linked adrenoleukodystrophy ( ALD ) using mutational analysis at genomic DNA level is important .

肾上腺脑白质营养不良蛋白ATP结合区的原核表达与鉴定

Prokaryotic Expression and Characterization of ATP - binding Domain of X-linked Adrenoleukodystrophy Protein

目的探讨孪生兄弟患肾上腺脑白质营养不良（ALD）的临床、影像学及病理特征。

Objective To explore clinic , imageology and pathological characteristics of twin brothers with adrenoleukodystrophy ( ADL ) .

目的对3名来自不同家系的肾上腺脑白质营养不良（ALD）携带者所怀胎儿进行产前分子诊断。

Objective To carry out prenatal molecular diagnosis on 3 fetuses from different pedigrees with X-linked adrenoleukodystrophy ( ALD ) .

肾上腺脑白质营养不良（ALD）为X-连锁隐性遗传病，生化上以超长链饱和脂肪酸蓄积为特征。

Adrenoleukodystrophy is an X-linked disease , The characteristic biochemical abnormality of ALD is the accumulation of very-long-chain fatty acides ( VLCFA ) .

目的构建人肾上腺脑白质营养不良（adrenoleukodystrophy，ALD）蛋白（ALDprotein，ALDP）ATP结合区的原核重组载体并进行表达和鉴定。

Objective To construct a prokaryotic recombinant vector of ATP-binding domain of human X-linked adrenoleukodystrophy ( ALD ) protein and to detect its expression in E.

为了排除基因组DNA中假基因的干扰，利用扩增阻滞突变系统，成功地分析了一个肾上腺脑白质营养不良（R617G突变）家系成员的基因型。

To avoid the interference , genomic DNA from the family members with an adrenoleukodystrophy gene mutation ( R617G mutation ) was analyzed by amplification refractory mutation system .

目的：对1例肾上腺脑白质营养不良（ALD）患者及其家系成员的ALD基因的突变类型进行鉴定。

Identification of a novel mutation in the ALD gene of a Chinese patient with adrenoleukodystrophy AIM : To identify the mutational genotype in a Chinese family with adrenoleukodystrophy ( ALD ) .

目的研究X-连锁肾上腺脑白质营养不良（X-ALD）患者的氢质子核共振波谱（1HMRS）特点及其在早期诊断中的作用和意义。

Objective To study the characteristics of 1H-magnetic resonance spectrum ( 1HMRS ) in X-linked adrenoleukodystrophy ( X-ALD ) and its significance in early diagnosis and disease monitoring .

孪生兄弟患肾上腺脑白质营养不良的临床、影像学和病理特征

Clinical , imaging and pathological characteristics of twin brothers with adrenoleukodystrophy

肾上腺脑白质营养不良&附一个家系报道及基因研究

Adrenoleukodystrophy : a case report and pedigree study associated with genetic research

肾上腺脑白质营养不良外显子1,5基因突变分析

Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5

嗅鞘细胞移植治疗肾上腺脑白质营养不良1例

Olfactory sheathing cell transplantation in the treatment of a patient with addison-schilder disease

肾上腺脑白质营养不良23例临床与实验室分析

Clinical and laboratory analysis on 23 cases with adrenoleukodystrophy

X-连锁型肾上腺脑白质营养不良12例病例分析

X-linked adrenoleukodystrophy : an analysis of 12 cases

通过极长链脂肪酸检测从无症状的肾上腺脑白质营养不良患者中筛查肾上腺功能减退者

Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long - chain fatty acid screening

目的：分析肾上腺脑白质营养不良的影像特征及其诊断价值。

Purpose : To study the image features of adrenoleukodystrophy ( ALD ) and its diagnostic values .

目的：探讨肾上腺泉脑白质营养不良的病理、临床及MRI表现。X-连锁肾上腺脑白质营养不良发病机理及药物治疗的研究

Objective To study the pathology , clinical symptomatology and MRI findings of adrenoleukodystrophy . X-linked Adrenoleukodystrophy : Metabolic Defect and Pharmacological Therapy