CHARACTERISATION OF A NOVEL METABOLIC DEFECT IN PROLINE SYNTHESIS AND PATHOMECHANISM IN AUTOSOMAL RECESSIVE CUTIS LAXA SYNDROME TYPE 2B

被引：0
|
作者：
Gardeitchik, T. [1 ]
Fischer, B. [2 ]
Kouwenberg, D. [1 ]
Mohamed, M. [1 ]
Komak, U. [2 ]
Nijtmans, L. [1 ]
Morava, E. [1 ]
机构：
[1] Radboud Univ Nijmegen MC, Nijmegen, Netherlands
[2] Charite, D-13353 Berlin, Germany
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2012年 / 35卷
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中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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页码：S25 / S25
页数：1
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