一名患有常见1b型糖原贮积病突变但无中性粒细胞减少或中性粒细胞功能障碍的患者。
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.
作者信息
Martens D H J, Kuijpers T W, Maianski N A, Rake J P, Smit G P A, Visser G
机构信息
Department of Metabolic Disease, Beatrix Children's Hospital, PO Box 30001, 9700 RB Groningen, The Netherlands.
出版信息
J Inherit Metab Dis. 2006 Feb;29(1):224-5. doi: 10.1007/s10545-006-0146-x.
PMID:16601899
Abstract
We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.
摘要
我们描述了一名16岁男孩，患有Ib型糖原贮积病，为常见的1211-1212delCT突变的纯合子，他从未经历过中性粒细胞减少，也未患频繁感染或炎症性肠病。此外，中性粒细胞功能测试未显示异常。
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