MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - DIAGNOSIS BY STABLE-ISOTOPE DILUTION MEASUREMENT OF URINARY NORMAL-HEXANOYLGLYCINE AND 3-PHENYLPROPIONYLGLYCINE

被引：138

作者：

RINALDO, P

OSHEA, JJ

COATES, PM

HALE, DE

STANLEY, CA

TANAKA, K

机构：

[1] YALE UNIV,SCH MED,DEPT HUMAN GENET,333 CEDAR ST,POB 3333,NEW HAVEN,CT 06510

[2] CHILDRENS HOSP,DEPT ENDOCRINOL DIABET,PHILADELPHIA,PA 19104

[3] UNIV PENN,SCH MED,DEPT PEDIAT,DIV GENET,PHILADELPHIA,PA 19104

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1988年 / 319卷 / 20期

关键词：

D O I：

10.1056/NEJM198811173192003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1308 / 1313

页数：6

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