Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report

被引：3
|
作者：
Rose, Laura [1 ]
Hall, Katherine [1 ]
Tang, Sha [2 ]
Hasadsri, Linda [3 ]
Kimonis, Virginia [1 ]
机构：
[1] Univ Calif Irvine, Dept Pediat, Irvine, CA 92717 USA
[2] AmbryIrvine, Irvine, CA USA
[3] Mayo Clin, Div Lab Genet & Genom, Dept Lab Med & Pathol, Rochester, MN USA
来源：
CLINICAL NEUROLOGY AND NEUROSURGERY | 2020年 / 189卷
关键词：
Hereditary spastic paraplegia; Glutaric acidemia; FORM;
D O I：
10.1016/j.clineuro.2019.105553
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页数：4
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