Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency

被引：6

作者：

Holopainen, I

Pulkki, K

Heinonen, OJ

NantoSalonen, K

Haataja, L

Greter, J

Holme, E

vanKuilenburg, ABP

Vreken, P

vanGennip, AH

机构：

[1] UNIV TURKU,CENT HOSP,DEPT CLIN CHEM,FIN-20520 TURKU,FINLAND

[2] UNIV TURKU,CENT HOSP,DEPT PEDIAT,FIN-20520 TURKU,FINLAND

[3] SAHLGRENS UNIV HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN

[4] UNIV AMSTERDAM,ACAD MED CTR,DEPT CLIN CHEM,NL-1105 AZ AMSTERDAM,NETHERLANDS

[5] UNIV AMSTERDAM,ACAD MED CTR,DEPT PEDIAT,NL-1105 AZ AMSTERDAM,NETHERLANDS

[6] UNIV TURKU,DEPT PHYSIOL,SPORTS MED RES UNIT,TURKU,FINLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1997年 / 20卷 / 05期

关键词：

D O I：

10.1023/A:1005399131620

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：719 / 720

页数：2

共 3 条

[1] COMBINED DEFICIENCIES OF NADPH-DEPENDENT AND NADH-DEPENDENT DIHYDROPYRIMIDINE DEHYDROGENASES, A NEW FINDING IN A FAMILY WITH THYMINE-URACILURIA [J].

VANGENNIP, AH ;

VANLENTHE, H ;

ABELING, NGGM ;

BAKKER, HD ;

VANKUILENBURG, ABP .

JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (02) :185-188

[2] A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency [J].

Vreken, P ;

VanKuilenburg, ABP ;

Meinsma, R ;

Smit, GPA ;

Bakker, HD ;

DeAbreu, RA ;

vanGennip, AH .

JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (05) :645-654

[3]

WEBSTER DR, 1995, METABOLIC MOL BASES, P1777

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