Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia

被引：10

作者：

Terzioglu, M

Emre, S ^{[1
]}

Özen, H

Saltik, IN

Koçak, N

Ciliv, G

Yüce, A

Gürakan, F

机构：

[1] Hacettepe Univ, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey

[2] Hacettepe Univ, Fac Med, Dept Pediat Gastroenterol, TR-06100 Ankara, Turkey

[3] Hacettepe Univ, Fac Med, Dept Biochem, TR-06100 Ankara, Turkey

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2001年 / 24卷 / 08期

关键词：

D O I：

10.1023/A:1013956611607

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：881 / 882

页数：2

共 3 条

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[2] Molecular aspects of glycogen storage disease type Ia in Turkish patients:: A novel mutation in the glucose-6-phosphatase gene [J].

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[3] Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart [J].

Rake, JP ;

ten Berge, AM ;

Visser, G ;

Verlind, E ;

Niezen-Koning, KE ;

Buys, CHCM ;

Smit, GPA ;

Scheffer, H .

EUROPEAN JOURNAL OF PEDIATRICS, 2000, 159 (05) :322-330

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