Turkish Journal of Pediatrics
Congenital sialidosis.
只有注册用户可以翻译文章
登陆注册
链接已保存到剪贴板
关键词
抽象
Congenital sialidosis is a rare disease resulting from the absence of neurominidase and presenting with hydrops fetalis, hepatosplenomegaly, dysmorphic features, vacuolated lymphocytes and extensive vacuolation of the connective tissue. Elevated levels of sialooligosaccharides in the urine is characteristic. We describe a newborn baby with congenital sialidosis and discuss the difficulties in reaching the diagnosis.