2023年8月8日 · Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism …

Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar …

2006年4月19日 · Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. …

糖原累积病Ⅰ a型（glycogen storage disease type Ⅰ a，GSDIⅠa）是由于细胞微粒体膜上的 葡萄糖一6—磷酸酶 (glucose -6 - phosphatase，G6PC)催化亚单位先天性缺陷所致 [1]。 GSD I …

糖原贮积病Ia，也称为糖原贮积病I型，与范可尼-毕克综合症和糖原贮积病V有关，症状包括间歇性腹泻。 与糖原贮积病Ia有关的重要基因是G6PC1（葡萄糖-6-磷酸酶催化亚基1），其相关通 …

2023年2月17日 · 肝醣儲積症在全世界的發生率約為 1/20000-1/25000，而第 1A 型的全世界發生率約 1/100000， 為肝醣儲積症中最常見的類型之一。 遺傳模式： 體染色體隱性遺傳。 臨床表 …

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term). …

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. Explore …

糖原累积病（GSD）1a型是由于葡萄糖-6-磷酸酶催化亚单位缺陷所致的常染色体隐性遗传病，属于一种罕见的遗传代谢性疾病。 现报道1例GSD-1a青年女性患者，具有典型症状和体征，即 …

2021年10月16日 · This ar-ticle focuses on current research progress in GSD-1a as well as its underlying mechanisms and potential treatments based on molecular genetics, animal model …