Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation

被引：8

作者：

Christensen, E

Cezanne, I

Kjaergaard, S

Horlyk, H

Pedersen, VF

Vreken, P

van Kuilenburg, ABP

van Gennip, AH

机构：

[1] Rigshosp, Juliane Marie Ctr, Dept Clin Genet 4062, DK-2100 Copenhagen, Denmark

[2] Cent Hosp Hillerod, Dept Pediat, Hillerod, Denmark

[3] Glostrup Cty Hosp, Dept Pediat, DK-2600 Glostrup, Denmark

[4] Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, NL-1105 AZ Amsterdam, Netherlands

[5] Univ Amsterdam, Acad Med Ctr, Div Emma Childrens Hosp, NL-1105 AZ Amsterdam, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 03期

关键词：

D O I：

10.1023/A:1005328424310

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：272 / 275

页数：4

共 7 条

[1] GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND NEURORADIOLOGICAL FEATURES [J].

AMIR, N ;

ELPELEG, O ;

SHALEV, RS ;

CHRISTENSEN, E .

NEUROLOGY, 1987, 37 (10) :1654-1657

[2] URINARY-EXCRETION OF SUCCINYLACETONE AND DELTA-AMINOLEVULINIC-ACID IN PATIENTS WITH HEREDITARY TYROSINEMIA [J].

CHRISTENSEN, E ;

JACOBSEN, BB ;

GREGERSEN, N ;

HJEDS, H ;

PEDERSEN, JB ;

BRANDT, NJ ;

BAEKMARK, UB .

CLINICA CHIMICA ACTA, 1981, 116 (03) :331-341

[3]

VANGENNIP AH, 1993, CLIN CHEM, V39, P380

[4] Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects [J].

vanGennip, AH ;

Abeling, NGGM ;

Vreken, P ;

vanKuilenburg, ABP .

JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (02) :203-213

[5]

vanKuilenburg ABP, 1996, ANTICANCER RES, V16, P389

[6] 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

[7] DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY - A FURTHER CASE [J].

WILCKEN, B ;

HAMMOND, J ;

BERGER, R ;

WISE, G ;

JAMES, C .

JOURNAL OF INHERITED METABOLIC DISEASE, 1985, 8 :115-116

← 1 →