A MAN WITH TYPE-III GLYCOGENOSIS ASSOCIATED WITH CIRRHOSIS AND PORTAL-HYPERTENSION

被引：16

作者：

MARKOWITZ, AJ

CHEN, YT

MUENZER, J

DELBUONO, EA

LUCEY, MR

机构：

[1] UNIV MICHIGAN,MED CTR,DEPT INTERNAL MED,DIV GASTROENTEROL,3912 TAUBMAN CTR,BOX 0362,ANN ARBOR,MI 48109

[2] UNIV MICHIGAN,MED CTR,DEPT PEDIAT & COMMUNICABLE DIS,ANN ARBOR,MI 48109

[3] UNIV MICHIGAN,MED CTR,DEPT PATHOL,ANN ARBOR,MI 48109

[4] DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710

来源：

GASTROENTEROLOGY | 1993年 / 105卷 / 06期

关键词：

D O I：

10.1016/0016-5085(93)91088-Y

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Type III glycogenosis, an inherited disorder of glycogen metabolism that results from reduced or absent activity of the enzyme amylo-1,6-glycosidase (debranching enzyme), has not been frequently associated with cirrhosis and portal hypertension in adults. An adult Caucasian man with well-documented type IIIa glycogenosis, who presented with a variceal hemorrhage secondary to hepatic cirrhosis, is described here. No other cause of cirrhosis was found. © 1993.

引用

页码：1882 / 1885

页数：4

共 21 条

[1]

BROWN BI, 1985, CONGENITAL METABOLIC, P227

[2]

BROWN DH, 1968, METHOD ENZYMOL, V8, P515

[3]

CHEN YT, 1987, AM J HUM GENET, V41, P1002

[4] GLYCOGEN-STORAGE-DISEASE TYPE-III (GLYCOGEN DEBRANCHING ENZYME DEFICIENCY) - CORRELATION OF BIOCHEMICAL DEFECTS WITH MYOPATHY AND CARDIOMYOPATHY [J].