glycogen storage disease

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

Glycogen Storage Disease Associated with Lipid Storage Myopathy

糖原贮积症伴脂质贮积症

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

Advances in the Study of Glycogen Storage Disease Type ⅱ

Ⅱ型糖原累积病的研究进展

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

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

Research Advances of Glycogen Storage Disease Type I

糖原累积病Ⅰ型研究的新进展

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

糖原累积病Ⅱ型的临床分析和基因学检测

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

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

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。

Renal complications of hepatic glycogen storage disease

肝糖原贮积症肾脏并发症的临床观察

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。

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？

Neonatal type IV glycogen storage disease associated with null mutations in glycogen branching enzyme 1

糖原分枝酶1无效突变相关性IV型糖原贮积病新生儿亚型

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

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。

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。

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 .

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。

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。

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

糖原贮积症Ⅲ型基因突变的初步研究