新生儿遗传代谢脑病的研究进展

新生儿期发病的遗传代谢性疾病常导致脑病的发生，但由于不能及时准确的诊断及早期救治，重者死亡，即使存活也遗留严重的神经系统后遗症。尽管有相当一部分的遗传代谢脑病发病机制尚未明确，但是随着新生儿遗传代谢筛查的开展,MR1检测技术在新生儿领域不断应用，某些患儿在临床症状出现之前或出现后不久即得到及时的诊断及治疗，从而改善预后...

Progress of hereditary metabolic encephalopathy in neonates

Encephalopathy secondary to hereditary metabolic diseases leads to high mortality due to the difficulties in early diagnosis and timely treatment. Survivors are often left with severe sequelaes of the nervous system. A considerable number of hereditary metabolic diseases are not thoroughly understood, but pre-clinical or early-clinical diagnosis and treatment can be attempted with MRI which can generally optimize the outcome.