NEUTRAL LIPID STORAGE DISEASE - CASE-REPORT AND LIPID STUDIES

被引：20

作者：

JUDGE, MR

ATHERTON, DJ

SALVAYRE, R

HILAIRE, N

LEVADE, T

JOHNSTON, DI

WINCHESTER, B

LAKE, BD

机构：

[1] HOSP SICK CHILDREN,LONDON WC1N 3JH,ENGLAND

[2] FAC MED TOULOUSE,INSERM,CJF 9206,BIOCHEM LAB,F-31054 TOULOUSE,FRANCE

[3] QUEENS MED CTR,NOTTINGHAM,ENGLAND

来源：

BRITISH JOURNAL OF DERMATOLOGY | 1994年 / 130卷 / 04期

关键词：

D O I：

10.1111/j.1365-2133.1994.tb03387.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

A 9-year-old boy of Greek-Cypriot origin had been diagnosed at the age of 3 years as suffering from non-bullous ichthyosiform erythroderma. However, he also had hepatomegaly and abnormal liver function tests, biochemical evidence of myopathy, early cataracts, and lipid vacuoles in white blood cells and basal keratinocytes. A diagnosis of neutral lipid (triglyceride) storage disease was confirmed by lipid studies on cultured fibroblasts.

引用

页码：507 / 510

页数：4

共 14 条

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