Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

被引：7

作者：

Gibson, KM

Sweetman, L

Kozich, V

Pijackova, A

Tscharre, A

Cortez, A

Eyskens, F

Jakobs, C

Duran, M

Poll-The, BT

机构：

[1] Baylor Univ, Med Ctr, Inst Metab Dis, Dallas, TX USA

[2] Univ Texas, SW Med Ctr, Dept Neurol, Dallas, TX 75235 USA

[3] Charles Univ, Sch Med 1, Ctr Inherited Metab Dis, Prague, Czech Republic

[4] Res Inst Child Hlth, Brno, Czech Republic

[5] Reg Hosp, Dept Pediat, Feldkirch, Austria

[6] Childrens Hosp Orange Cty, Dept Endocrinol & Metab, Orange, CA 92668 USA

[7] Univ Antwerp, Metab Unit, Antwerp, Belgium

[8] Free Univ Amsterdam, Dept Clin Chem & Pediat, Amsterdam, Netherlands

[9] Wilhelmina Childrens Hosp, Dept Metab Dis, Utrecht, Netherlands

来源：

关键词：

D O I：

10.1023/A:1005368106563

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：255 / 261

页数：7