Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

被引：31

作者：

Christensen, E

Ribes, A

Busquets, C

Pineda, M

Duran, M

PollThe, BT

Greenberg, CR

Leffers, H

Schwartz, M

机构：

[1] INST BIOQUIM CLIN,BARCELONA,SPAIN

[2] HOSP SANT JOAN DE DEU,BARCELONA,SPAIN

[3] WILHELMINA CHILDRENS HOSP,UTRECHT,NETHERLANDS

[4] UNIV MANITOBA,SECT GENET & METAB,WINNIPEG,MB,CANADA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1997年 / 20卷 / 03期

关键词：

D O I：

10.1023/A:1005390214391

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：383 / 386

页数：4

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