A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing

被引：1
|
作者：
Celik, Fatma Cakmak [1 ]
Ozlu, Mustafa [2 ]
Ceylaner, Serdar [3 ]
机构：
[1] Bahcesehir Univ, Medistate Hosp, Fac Med, Dept Pediat,Neonatol Div, Istanbul, Turkey
[2] Medistate Hosp, Dept Radiol, Istanbul, Turkey
[3] Intergen Genet Ctr, Ankara, Turkey
来源：
CLINICAL NEUROLOGY AND NEUROSURGERY | 2021年 / 202卷
关键词：
Adenylosuccinate lyase (ADSL) deficiency; Infant; Respiratory distress; Hypotonic infant; Seizure;
D O I：
10.1016/j.clineuro.2021.106506
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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