[新生儿严重代谢性疾病。诊断与治疗（作者译）]
[Severe metabolic diseases in neonates. Diagnosis and treatment (author's transl)].
作者信息
Koepp P, Grüttner R
出版信息
Klin Padiatr. 1975 Jan;187(1):14-9.
PMID:1168276
Abstract
Life-threatening diseases in the newborn period might be due to rare inborn errors of metabolism. Clincal symptoms, diagnostic approach and therapy are outlined in some inherited diseases of amino acid-, carbohydrate and organic acid metabolism. A proposual for initial management in a suspected case is made.
摘要
新生儿期危及生命的疾病可能归因于罕见的先天性代谢缺陷。本文概述了一些氨基酸、碳水化合物和有机酸代谢遗传性疾病的临床症状、诊断方法及治疗。并针对疑似病例提出了初步管理建议。
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