Carbohydrate-deficient glycoprotein syndrome with previously unreported features.
作者信息
Eyskens F, Ceuterick C, Martin J J, Janssens G, Jaeken J
机构信息
General Pediatric Hospital, Antwerp, Belgium.
出版信息
Acta Paediatr. 1994 Aug;83(8):892-6. doi: 10.1111/j.1651-2227.1994.tb13166.x.
Abstract
A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.
摘要
Zotero 插件