糖原累积病

其中一共有12名儿童（5%）（8名女童，4名男童）患有糖原累积病而药物治疗无效。

A total of12 ( 5 % ) children ( 8 female and4 male ) were afflicted with GSD and were not responsive to medical treatment .

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。

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

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

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

结论糖原累积病Ⅰa型可直接进行DNA分析以明确诊断，葡萄糖-6-磷酸酶外显子5的727G→T突变的发生在中国人中的发生率有待进一步研究。

Conclusion The DNA analysis is helpful for confirmation of the diagnosis of glycogen storage disease Ia and 727G → T in exon 5 may be a prevalent mutation causing glycogen storage disease I a in Chinese .

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。

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 .

糖原累积病Ⅰa型分子遗传学家系研究

Molecular Genetics Analysis of Glycogen Storage Disease Ia in Chinese Family

Ⅱ型糖原累积病的研究进展

Advances in the Study of Glycogen Storage Disease Type ⅱ

糖原累积病Ⅱ型的临床分析和基因学检测

Clinical and genomic study of the infant with glycogen storage disease type ⅱ

糖原累积病Ⅲ型临床和基因研究进展

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

报告1例糖原累积病Ⅰ型。患者男，35岁。

A 35-year-old man presented with type I glycogenosis .

糖原累积病Ⅰ型研究的新进展

Research Advances of Glycogen Storage Disease Type I

糖原累积病Ⅰ型肝脏组织的超微结构观察

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

目的研究1例糖原累积病Ⅰa型患者发病的分子遗传学机制。

Objective To investigate the molecular genetic mechanism of a patient with glycogen storage disease la .

糖原累积病1例

One case of report of glycogenosis

本文就Ⅱ型糖原累积病的流行病学、基因突变特征、诊断新方法和治疗方面的进展作一介绍。

Advances in epidemiology , characterization of GAA gene mutations , novel diagnostic approaches and the therapy for GSD ⅱ are reviewed in this article .

常见的代谢性肌病主要分为三大类：糖原累积病，脂质沉积性肌病及由于呼吸链氧化磷酸化障碍所导致的的线粒体疾病，每一类型又可分为许多临床亚型。

Accordingly , it mainly divided into three categories : glycogen storage diseases , lipid storage myopathy and mitochondrial diseases caused by the respiratory chain impairment , each type can be divided into many clinical subtypes .