DIAGNOSIS OF CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY BY COMPLEMENTATION ANALYSIS

被引：18

作者：

BRIVET, M

SLAMA, A

OGIER, H

BOUTRON, A

DEMAUGRE, F

SAUDUBRAY, JM

LEMONNIER, A

机构：

[1] HOP ROBERT DEBRE,INVEST CLIN,F-75019 PARIS,FRANCE

[2] HOP NECKER ENFANTS MALAD,INSERM,U75,F-75015 PARIS,FRANCE

[3] HOP NECKER ENFANTS MALAD,GENET MED CLIN,F-75015 PARIS,FRANCE

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 03期

关键词：

D O I：

10.1007/BF00711805

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：271 / 274

页数：4

共 4 条

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MOON, A ;

RHEAD, WJ .

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[2] CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH SEVERE HYPOGLYCEMIA AND ATRIOVENTRICULAR-BLOCK - TRANSLOCASE ASSAY IN PERMEABILIZED FIBROBLASTS [J].

PANDE, SV ;

BRIVET, M ;

SLAMA, A ;

DEMAUGRE, F ;

AUFRANT, C ;

SAUDUBRAY, JM .

JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (03) :1247-1252

[3]

POLLTHE BT, 1989, HUM GENET, V81, P175

[4] A DEFICIENCY OF CARNITINE ACYLCARNITINE TRANSLOCASE IN THE INNER MITOCHONDRIAL-MEMBRANE [J].

STANLEY, CA ;

HALE, DE ;

BERRY, GT ;

DELEEUW, S ;

BOXER, J ;

BONNEFONT, JP .

NEW ENGLAND JOURNAL OF MEDICINE, 1992, 327 (01) :19-23

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