A NEW CASE OF DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY

被引：21

作者：

BROCKSTEDT, M

JAKOBS, C

SMIT, LME

VANGENNIP, AH

BERGER, R

机构：

[1] UNIV AMSTERDAM,ACAD MED CTR,EMMA CHILDRENS HOSP,1105 AZ AMSTERDAM,NETHERLANDS

[2] STATE UNIV GRONINGEN,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1990年 / 13卷 / 01期

关键词：

D O I：

10.1007/BF01799339

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia. © 1990 Kluwer Academic Publishers.

引用

页码：121 / 124

页数：4

共 13 条

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