Sharma, Suvasini ; Kumar, Pradeep ; Agarwal, Ramesh ; Kabra, Madhulika ; Deorari, Ashok K. ; Paul, Vinod K. (2008) Approach to inborn errors of metabolism presenting in the neonate Indian Journal of Pediatrics, 75 (3). pp. 271-276. ISSN 0019-5456
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Official URL: http://link.springer.com/article/10.1007%2Fs12098-...
Related URL: http://dx.doi.org/10.1007/s12098-008-0058-x
Abstract
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.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Springer Verlag. |
| Keywords: | Inborn Errors of Metabolism; Encephalopathy; Hyperammonemia |
| ID Code: | 104224 |
| Deposited On: | 08 Dec 2017 09:48 |
| Last Modified: | 08 Dec 2017 09:48 |
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