Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.
نویسندگان
چکیده
A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.
منابع مشابه
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 72 5 شماره
صفحات -
تاریخ انتشار 1995