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 …

糖原累积病 (glycogen storage disease，GSD)是糖原代谢过程中各种酶缺陷导致的一组先天性遗传代谢性疾病，以糖原在全身各器官组织中过度沉积为特征，主要累及肝脏或（和）肌肉，是一 …

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 …

2023年2月17日 · 此疾病大致共分為11 種類型，其中第 1 型可分為 A、B 兩種亞型，1A 型又稱為馮吉爾克病 (von Gierke's disease)， 發生佔第 1 型的 80%，以下針對此類型疾病簡介。 病 …

2022年9月27日 · 糖原累积病Ia型（glycogen storage disease type Ia， GSDIa）是一种可治疗的罕见病，为常染色体隐性遗传病。 由于G6PC基因变异导致葡萄糖-6-磷酸酶活性不足，糖原 …

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. …

GSD是糖类代谢异常的遗传性疾病，以Ⅰa型最常见，主要源于葡萄糖-6-磷酸酶催化亚单位（glucose-6-phosphatase catalytic subunit,G6PC）基因突变导致的葡萄糖-6-磷酸酶活性异 …

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. The …

Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized …

Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during …