glycogen storage disease

Research Advances of Glycogen Storage Disease Type I

糖原累积病Ⅰ型研究的新进展

Advances in the Study of Glycogen Storage Disease Type ⅱ

Ⅱ型糖原累积病的研究进展

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

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？

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。

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。

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

Renal complications of hepatic glycogen storage disease

肝糖原贮积症肾脏并发症的临床观察

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

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

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。

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

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

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 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。

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

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