A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported

被引：8

作者：

Karasawa, Y

Kobayashi, M

Nakano, Y

Aoki, Y

Kawa, S

Kiyosawa, K

Seki, H

Kawasaki, S

Furihata, K

Itoh, N

机构：

[1] Shinshu Univ, Sch Med, Dept Internal Med 2, Matsumoto, Nagano 390, Japan

[2] Kiso Prefectural Hosp, Dept Internal Med, Kiso, Japan

[3] Shinshu Univ, Sch Med, Dept Surg 1, Matsumoto, Nagano 390, Japan

[4] Shinshu Univ, Sch Med, Dept Lab Med, Matsumoto, Nagano 390, Japan

[5] Shinshu Univ, Sch Med, Dept Pathol 1, Matsumoto, Nagano 390, Japan

来源：

AMERICAN JOURNAL OF GASTROENTEROLOGY | 1998年 / 93卷 / 09期

关键词：

D O I：

10.1111/j.1572-0241.1998.00480.x

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

We report a case of 23-yr-old man with glycogen storage disease (GSD) type Ia complicated by multiple hepatic adenomas, Analysis of the G-6-Pase gene using peripheral blood sample showed this patient to be homozygous for a G-to-T transversion at nucleotide 727 in exon 5. This mutation is prevalent among Japanese patients, suggesting that specific genotypes may correlate with different clinical courses or outcomes. (Am J Gastroenterol 1998;93:1550-1553, (C) 1998 by Am. Coll. of Gastroenterology).

引用

页码：1550 / 1553

页数：4

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