| Autor: |
Avijit Saha, Shritama Aich, Kheya Mukherjee, Tapas Kumar Sur, Sandip Ghosh, Sanjay Vashisth |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Disease and Diagnosis, Vol 12, Iss 4, Pp 193-203 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2717-3232 |
| DOI: |
10.34172/ddj.2023.501 |
| Popis: |
Biochemical anomalies impairing the body’s normal metabolism are referred to as inborn errors of metabolism (IEM). Early diagnosis and management can avert the otherwise harmful situation that may occur due to inborn errors. Generally, their incidence can vary from one case in every 800 to 2500 cases. Thus, understanding the genetic defects behind the clinical presentation of the disease and their early management and treatment is the need of the hour. This review article gives an overall knowledge of the types of IEM, its pathophysiology, clinical presentation, diagnosis, and management of the disease. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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