Tissue-specific pyruvate dehydrogenase deficiency in a boy with novel mutations in the E1 β subunit

被引：0
|
作者：
Mayr, J. A. [1 ]
Koch, J. [1 ]
Rauscher, C. [1 ]
Bernert, G. [2 ]
Sperl, W. [1 ]
机构：
[1] Paracelsus Med Univ, Dept Pediat, Salzburg, Austria
[2] Preyer Kinderspital, Vienna, Austria
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2008年 / 31卷
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D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
213P
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页码：54 / 54
页数：1
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