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

作者信息

Christensen E, Cezanne I, Kjaergaard S, Hørlyk H, Faurholt Pedersen V, Vreken P, van Kuilenburg A B, Van Gennip A H

机构信息

Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):272-5. doi: 10.1023/a:1005328424310.

DOI:10.1023/a:1005328424310
PMID:9686373
Abstract
摘要

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Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.
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本文引用的文献

1
Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.嘧啶降解的先天性代谢缺陷：临床、生化及分子学方面
J Inherit Metab Dis. 1997 Jun;20(2):203-13. doi: 10.1023/a:1005356806329.
2
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.在两名患有二氢嘧啶脱氢酶缺乏症的不相关荷兰患者中，一个不变剪接供体位点的点突变导致外显子跳跃。
J Inherit Metab Dis. 1996;19(5):645-54. doi: 10.1007/BF01799841.
3
Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.
Anticancer Res. 1996 Jan-Feb;16(1):389-94.
4
Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.
Clin Chem. 1993 Mar;39(3):380-5.
5
Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.
Clin Chim Acta. 1981 Nov 11;116(3):331-41. doi: 10.1016/0009-8981(81)90052-8.
6
Dihydropyrimidine dehydrogenase deficiency--a further case.
J Inherit Metab Dis. 1985;8 Suppl 2:115-6. doi: 10.1007/BF01811485.
7
Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.
Neurology. 1987 Oct;37(10):1654-7. doi: 10.1212/wnl.37.10.1654.