COCKAYNES SYNDROME - REPORT OF A CASE WITH HYPERLIPOPROTEINEMIA, HYPERINSULINEMIA, RENAL DISEASE, AND NORMAL GROWTH HORMONE

被引：45

作者：

FUJIMOTO, WY

GREENE, ML

SEEGMILLER, JE

机构：

[1] Section on Human Biochemical Genetics, National Institute of Arthritis and Metabolic Disease, Bethesda, MD

来源：

JOURNAL OF PEDIATRICS | 1969年 / 75卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(69)80317-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 9-year-old girl with Cockayne's syndrome had, in addition to the usual clinical features of the disorder, type II hyperlipo-proteinemia, fasting hyperinsulinemia, and renal insufficiency with acidosis. The normal growth hormone response to an intravenous infusion of arginine indicates that the dwarfism in this disorder is not due to inability to elaborate growth hormone. © 1969 The C. V. Mosby Company.

引用

页码：881 / +

页数：1

共 16 条

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