FAMILIAL HYPOKETOTIC HYPOGLYCEMIA ASSOCIATED WITH PERIPHERAL NEUROPATHY, PIGMENTARY RETINOPATHY AND C-6-C-14 HYDROXYDICARBOXYLIC ACIDURIA - A NEW DEFECT IN FATTY-ACID OXIDATION

被引：35

作者：

POLLTHE, BT

BONNEFONT, JP

OGIER, H

CHARPENTIER, C

PELET, A

LEFUR, JM

JAKOBS, C

KOK, RM

DURAN, M

DIVRY, P

SCOTTO, J

SAUDUBRAY, JM

机构：

[1] CHU AUGUSTIN MORVAN,BREST,FRANCE

[2] FREE UNIV AMSTERDAM,1007 MC AMSTERDAM,NETHERLANDS

[3] STATE UNIV UTRECHT,CHILDRENS HOSP WILHELMINA KINDERZIEKENHUIS,UTRECHT,NETHERLANDS

[4] HOP DEBROUSSE,F-69005 LYON,FRANCE

[5] HOP BICETRE,F-94270 KREMLIN BICETRE,FRANCE

[6] INSERM,U56,F-75005 PARIS,FRANCE

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1988年 / 11卷

关键词：

D O I：

10.1007/BF01804230

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：183 / 185

页数：3

共 4 条

[1]

GREGERSEN N, 1985, SCAND J CLIN LA S174, V45

[2]

KASE F, 1983, J LIPID RES, V24, P1560

[3] A NEW CASE OF C-6-C-14 DICARBOXYLIC ACIDURIA WITH FAVORABLE EVOLUTION [J].

RIUDOR, E ;

RIBES, A ;

BORONAT, M ;

SABADO, C ;

DOMINGUEZ, C ;

BALLABRIGA, A .

JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 :297-299

[4] PEROXISOMAL DISORDERS - A NEWLY RECOGNIZED GROUP OF GENETIC-DISEASES [J].

SCHUTGENS, RBH ;

HEYMANS, HSA ;

WANDERS, RJA ;

VANDERBOSCH, H ;

TAGER, JM .

EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) :430-440

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