Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type ⅲ

1、

Objective To develop and evaluate a simple, fast and accurate prenatal diagnosis method for glycogen storage disease Ia ( GSD Ia) in Chinese.

目的探讨中国人Ia型糖原累积病简便、快速、准确的产前诊断方法。

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2、

Research Advances of Glycogen Storage Disease Type I

糖原累积病Ⅰ型研究的新进展

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3、

Therefore, physicians must have sufficient recognition for this disease, and be on the alert for hepatic glycogen storage disease, give a right and prompt diagnosis combined with family history, physical examinations and laboratory findings.

结论肝糖原累积病临床表现多样，要及时准确地诊断本病，需要对本病有充分的认识，结合患者的家族史、临床表现及各种实验室，影像学检查结果正确地加以综合分析。

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4、

Ultrastructural study on live tissue in a case of glycogen storage disease type ⅰ

糖原累积病Ⅰ型肝脏组织的超微结构观察

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5、

Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis

葡萄糖6磷酸酶基因热点突变检测结合1176多态位点连锁分析快速产前诊断Ia型糖原累积病

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6、

Benign course of glycogen storage disease type IIb in two brothers: Nature or nurture?

兄弟二人IIb型糖原贮积症的良性病程：自然还是营养的结果？

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7、

Objective To study renal involvement in hepatic glycogen storage disease ( GSD) in childhood.

目的观察儿童期肝糖原贮积症（GSD）的肾脏并发症。

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8、

Molecular Genetics Analysis of Glycogen Storage Disease Ia in Chinese Family

糖原累积病Ⅰa型分子遗传学家系研究

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9、

Objective To obtain the mutation spectrum of glucose-6-phosphatase ( G6Pase) gene in Chinese patients with glycogen storage disease type ⅰ a ( GSD ⅰ a) and to analyze the relationship of its genotype and phenotype.

目的了解中国人葡萄糖6磷酸酶（G6Pase）基因突变谱和突变热点，并分析糖原累积病Ⅰa型（GSDⅠa）基因型和临床表型的相关性。

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10、

Glycogen Storage Disease Associated with Lipid Storage Myopathy

糖原贮积症伴脂质贮积症

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11、

Recent advances of clinical and genomic study of glycogen storage disease type ⅲ

糖原累积病Ⅲ型临床和基因研究进展

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12、

Clinical and Mutation Analysis of Glycogen Storage Disease Type ⅲ

糖原累积症-Ⅲ型的临床和糖原脱枝酶基因突变分析

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13、

The clinical and pathological features of Chinese patients of type ⅰ glycogen storage disease with renal involvement

Ⅰ型糖原贮积症肾损害临床表现和病理改变

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14、

Objective: To study the relationship between hepatocyte endoplasmic reticulum, glycogen granule and lipid droplet morphological variety and time with mice following SeO 2 poisoning.

目的：对SeO2中毒所致肝细胞内质网、糖原和脂滴的变化进行时间形态学定量研究。

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15、

Results The average proportion of RRF was 5.3% in 4 cases, and glycogen granule deposition and crystal include bodies in 2 cases.

6例患者中4例发现破碎红纤维（RRF），其平均比例为5.3%；超微结构观察有线粒体异常及糖原颗粒沉积，其中有2例发现有典型晶格状包涵体。

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16、

The results showed that induced HPP colonies cells with a specific ultrastructure similar to hepatic epithelial cells, such as many microvilli on the cell surface, large nucleolus and many round-shaped mitochondria, and lots of glycogen granule in the cytoplasm.

检测结果显示诱导后的部分细胞具有肝细胞特异性的超微结构，在细胞表面形成微绒毛，在胞浆内具有较大的细胞核，大量的圆形线粒体和糖原颗粒。

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17、

Effect of dietary carbohydrate levels on growth, feed utilization and liver glycogen in Chinese mitten-handed crab Eriocheir sinensis Carbohydrate, fat and protein are the basic feedstuffs.

饲料不同碳水化合物水平对中华绒螯蟹生长、饲料利用及肝糖原含量的影响碳水化合物、脂肪与蛋白质都是饲料中的基本营养成分。

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18、

Variation of animal's liver glycogen contents induced by noise

取肝脏检测肝糖原。噪声引起动物肝糖原变化

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19、

Meanwhile, the function evaluations of by the blood sugar test, liver glycogen test and swimming trial showed that saccharide mixtures could enhance anti-fatigue function.

同时，以血糖、肝糖原和游泳时间为指标的功能性评价表明复配糖类有增加抗疲劳的功能。

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20、

Liver glycogen contents in model mice significantly declined except neonatal STZ-induced model mice.

除n5STZ诱导模型外，其它模型组肝糖原的含量均明显低于对照组。

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