Clinical Description of a Rare Autosomal Recessive Syndrome in the Yakut Children

被引：0
|
作者：
Gurinova, E. E.
Maksimova, N. R.
Sukhomyasova, A. L.
机构：
来源：
YAKUT MEDICAL JOURNAL | 2014年 / 02期
关键词：
hereditary metabolic disease; lysosomal diseases; storage disease; Yakuts; Hurler-like phenotype;
D O I：
暂无
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
The article describes the clinical signs (symptoms) of a rare storage disease in eleven Yakut infants. All the children were from unrelated families. The disease is very severe, leading to the disability and death at an early age. Diagnostics using the most complicated and advanced biochemical methods hasn't produced results.
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页码：14 / 18
页数：5
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