Hepatic storage of glycogen in Niemann-Pick disease type B

被引：1
|
作者：
Smith, WE
Kahler, SG
Frush, DP
Milov, DE
Gottfried, MR
Chen, YT
机构：
[1] Duke Univ, Med Ctr, Div Med Genet, Dept Pediat, Durham, NC 27710 USA
[2] Nemours Childrens Clin, Div Gastroenterol, Orlando, FL USA
[3] Univ Melbourne, Melbourne, Vic, Australia
[4] Duke Univ, Med Ctr, Dept Radiol, Durham, NC 27710 USA
[5] Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 USA
[6] Mardoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia
来源：
JOURNAL OF PEDIATRICS | 2001年 / 138卷 / 06期
关键词：
D O I：
10.1067/mpd.2001.113103
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance ofa complete evaluation, including biochemical confirmation, for patients with suspected metabolic storage diseases.
引用
收藏
页码：946 / 948
页数：3
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