一名患有ALG-13基因突变（一种罕见的先天性糖基化障碍）患者的儿科麻醉管理
Pediatric Anesthetic Management of a Patient With an ALG-13 Gene Mutation, a Rare Congenital Disorder of Glycosylation.
作者信息
Thakkar Esha, Iasiello John A, Cai Sunny R, Hutton Adrienne
机构信息
Brody School of Medicine at East Carolina University Greenville North Carolina USA.
出版信息
Clin Case Rep. 2025 Jan 16;13(1):e70027. doi: 10.1002/ccr3.70027. eCollection 2025 Jan.
Abstract
Congenital disorders of glycosylation are rare and present a challenge in management due to interactions with intraoperative medications. We present safe and successful anesthetic management of a pediatric patient with an ALG-13 gene mutation.
摘要
先天性糖基化障碍较为罕见，由于与术中用药存在相互作用，其管理颇具挑战。我们展示了对一名患有ALG - 13基因突变的儿科患者进行安全且成功的麻醉管理。
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