期刊
INDIAN JOURNAL OF PEDIATRICS
卷 75, 期 3, 页码 271-276出版社
ALL INDIA INST MEDICAL SCIENCES
DOI: 10.1007/s12098-008-0058-x
关键词
inborn errors of metabolism; encephalopathy; hyperammonemia
类别
Inborn errors of metabolism (IEM) are an important cause of acute illness in newborns. Presentation may mimic common neonatal conditions such as sepsis. Prompt detection requires a high index of suspicion and the early measurement of biochemical markers such as blood ammonia. Diagnosis is important not only for treatment but also for genetic counselling. Guidelines for diagnosis and early management of IEM presenting in the neonatal period are described.
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