GENETIC DEFICIENCY OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE IN CULTURED FIBROBLASTS FROM A PATIENT WITH MUSCLE CARNITINE DEFICIENCY AND SEVERE SKELETAL-MUSCLE WEAKNESS

被引:87
作者
COATES, PM
HALE, DE
FINOCCHIARO, G
TANAKA, K
WINTER, SC
机构
[1] CHILDRENS HOSP,DIV ENDOCRINOL DIABET,PHILADELPHIA,PA 19104
[2] UNIV PENN,SCH MED,DEPT PEDIAT,PHILADELPHIA,PA 19104
[3] YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
[4] VALLEY CHILDRENS HOSP,DIV MED GENET,FRESNO,CA 93703
关键词
D O I
10.1172/JCI113290
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
收藏
页码:171 / 175
页数:5
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