智障儿童筛查期间发现三例黏多糖贮积症及一例罕见高氨基酸尿症报告。
Report of three cases of mucopolysacchaidoses and an unusual case of hyperaminoaciduria detected during the screening of mentally retarded children.
作者信息
Devi K S, Veeraju P, Rao B S
机构信息
Department of Human Genetics, Andhra University, Waltair, India.
出版信息
Hum Hered. 1994 Mar-Apr;44(2):90-3. doi: 10.1159/000154197.
PMID:8188315
Abstract
315 mentally retarded children from the coastal districts of Andhra Pradesh, south India, were screened to detect metabolic defects. Results with 2 cases of Hunter's syndrome, 1 case of Sanfilippo's syndrome and an unusual case of hyperamino aciduria are presented.
摘要
对来自印度南部安得拉邦沿海地区的315名智障儿童进行了筛查，以检测代谢缺陷。本文报告了2例亨特综合征、1例桑菲利普综合征以及1例罕见的高氨基酸尿症病例的筛查结果。
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