MOLYBDENUM COFACTOR DEFICIENCY IN 2 SIBLINGS - DIAGNOSTIC DIFFICULTIES

被引：4

作者：

HANSEN, LK

WULFF, K

DORCHE, C

CHRISTENSEN, E

机构：

[1] HOP DEBROUSSE,SERV BIOCHIM,F-69322 LYON 05,FRANCE

[2] ODENSE UNIV HOSP,DEPT PAEDIAT,DK-5000 ODENSE,DENMARK

[3] RIGSHOSP,DEPT PAEDIAT,CLIN GENET SECT,DK-2100 COPENHAGEN,DENMARK

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1993年 / 152卷 / 08期

关键词：

MOLYBDENUM COFACTOR DEFICIENCY; SULFITE OXIDASE DEFICIENCY;

D O I：

10.1007/BF01955243

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Two siblings with molybdenum cofactor deficiency are presented. They showed clinical, biochemical and neuroradiological features very similar to those of the few previously described cases. Difficulties in diagnosis are emphasised.

引用

页码：662 / 664

页数：3

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