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成人Ⅱ型瓜氨酸血症（CTLN2）在临床上相对少见，如果对本病缺乏足够的认识，很容易造成误诊和漏诊。本文将报道一例反复误诊为精神疾病长达4年的CTLN2基因确诊病例，系统回顾其临床特点及诊疗进展。
反复误诊的成人Ⅱ型瓜氨酸血症一例
【摘 要】
：
成人Ⅱ型瓜氨酸血症（CTLN2）在临床上相对少见，如果对本病缺乏足够的认识，很容易造成误诊和漏诊。本文将报道一例反复误诊为精神疾病长达4年的CTLN2基因确诊病例，系统回顾其临床特
【出 处】
：
中华内科杂志
【发表日期】
：
2021年1期
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