COLD INDUCED RHABDOMYOLYSIS IN CARNITINE PALMYITYL TRANSFERASE DEFICIENCY

被引：23

作者：

BROWNELL, AKW

SEVERSON, DL

THOMPSON, CD

FLETCHER, T

机构：

[1] UNIV CALGARY, FAC MED, DIV MED, CALGARY T2N 1N4, ALBERTA, CANADA

[2] UNIV CALGARY, FAC MED, DIV PATHOL, CALGARY T2N 1N4, ALBERTA, CANADA

[3] UNIV CALGARY, FAC MED, DIV PHARMACOL, CALGARY T2N 1N4, ALBERTA, CANADA

来源：

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES | 1979年 / 6卷 / 03期

关键词：

D O I：

10.1017/S0317167100024033

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A case of carnitine palmityl transferase deficiency in skeletal muscle is described. The usual symptoms associated with this disease (recurrent muscle cramps or pain and pigmenturia) were not observed, but sudden exposure to cold precipitated rhabdomyolysis in this patient.

引用

页码：367 / 370

页数：4

共 16 条

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[8] PARTIAL DEFICIENCY OF MUSCLE CARNITINE PALMITOYLTRANSFERASE WITH NORMAL KETONE PRODUCTION
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