Neonatal presentation of medium-chain acyl-CoA dehydrogenase deficiency in two families

被引：8

作者：

Kirk, JM ^{[1
]}

Laing, IA ^{[1
]}

Smith, N ^{[1
]}

Uttley, WS ^{[1
]}

机构：

[1] SIMPSON MEM MATERN PAVIL,EDINBURGH,MIDLOTHIAN,SCOTLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1996年 / 19卷 / 03期

关键词：

D O I：

10.1007/BF01799271

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：370 / 371

页数：2

共 3 条

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[2] NEONATAL SYMPTOMS IN MEDIUM-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY [J].

WILCKEN, B ;

CARPENTER, KH ;

HAMMOND, J .

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 1993, 69 (03) :292-294

[3] MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN PENNSYLVANIA - NEONATAL SCREENING SHOWS HIGH-INCIDENCE AND UNEXPECTED MUTATION FREQUENCIES [J].

ZIADEH, R ;

HOFFMAN, EP ;

FINEGOLD, DN ;

HOOP, RC ;

BRACKETT, JC ;

STRAUSS, AW ;

NAYLOR, EW .

PEDIATRIC RESEARCH, 1995, 37 (05) :675-678

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