PRIMARY CARNITINE DEFICIENCY: THE EFFECT OF 4-PHENYLBUTYRIC ACID ON NATURAL MUTATIONS

被引:0
|
作者
Frigeni, Marta [1 ]
Ingoglia, Filippo [2 ,3 ]
Balakrishnan, Bijina [4 ]
Pasquali, Marzia [3 ,5 ]
Longo, Nicola [3 ,5 ]
机构
[1] Northwell Hlth, Dept Pediat, Div Med Genet & Metab, Donald & Barbara Zucker Sch Med Hofstra, New York, NY USA
[2] Univ Utah, Dept Pathol, Salt Lake City, UT USA
[3] Univ Utah, ARUP Labs, Salt Lake City, UT USA
[4] Univ Utah, Dept Pediat, Salt Lake City, UT USA
[5] Univ Utah, Dept Pathol, Pediat, Salt Lake City, UT USA
关键词
D O I
10.1016/j.ymgme.2023.107413
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
039
引用
收藏
页码:48 / 49
页数:2
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