Objective To explore the clinical features,laboratory tests and diagnosis in children with inborn erorrs of metabolism combined with external ophthalmoplegia.
目的探讨合并眼外肌麻痹症状的先天代谢缺陷病患儿的临床特征、实验室检查及诊断。
参考来源 - 先天代谢缺陷病并眼外肌麻痹9例·2,447,543篇论文数据，部分数据来源于NoteExpress
该疾病确切地病因不明，但人们认为可能是内在代谢缺陷所造成的。
The exact cause of cerebellar abiotrophy is not known, but it is thought to be due to an intrinsic metabolic defect.
大多数DIP病例与吸烟有关，但少数为特发性或伴有先天性代谢缺陷。
Most cases of DIP are related to cigarette smoking, but a few are idiopathic or associated with rare inborn errors of metabolism.
在过去的50年，新生儿先天性代谢缺陷筛查已经逐渐演变成复杂的算法和分层检测。
Over the past 50 years newborn screening for inborn errors of metabolism has evolved into complex algorithms and tiered testing.
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