Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria

被引：15

作者：

Read, MH

Bonamy, C

Laloum, D

Belloy, F

Constans, JM

Guillois, B

Kottler, ML

Verhoeven, NM

Jakobs, C

机构：

[1] Ctr Hosp Univ, Dept Genet & Reprod, F-14033 Caen, France

[2] Ctr Hosp Univ, Dept Radiol, Caen, France

[3] VU Univ Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2005年 / 28卷 / 06期

关键词：

D O I：

10.1007/s10545-005-4565-x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report the fourth case of combined D-and L-2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.

引用

页码：1149 / 1150

页数：2

共 3 条

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