Maple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report
This case highlights the outpouring of hidden metabolic disorders with the onset of new diseases. It could have been detected and managed earlier with expedited neonatal screening and proper intervention.
Authors
- Aseem Bhattarai (ORCID: https://orcid.org/0000-0002-5393-0629)
- Raju Kumar Dubey (ORCID: https://orcid.org/0000-0003-0136-2524)
- Anuradha Kadel (ORCID: https://orcid.org/0000-0001-8122-6068)
- Machhindra Lamichhane
- Nikita Kharal (ORCID: https://orcid.org/0000-0002-0434-5431)
- Sujata Baidya (ORCID: https://orcid.org/0000-0003-3180-7459)
- Jyoti Thapa (ORCID: https://orcid.org/0000-0003-1449-7073)
- Eans Tara Tuladhar (ORCID: https://orcid.org/0000-0001-5705-3953)
- Apeksha Niraula (ORCID: https://orcid.org/0000-0003-2866-7969)
- Vijay Kumar Sharma (ORCID: https://orcid.org/0000-0002-9092-4957)
- Mithileshwer Raut
Institutions
- Tribhuvan University Teaching Hospital (NP)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2024-11-27
- DOI
- https://doi.org/10.1186/s12887-024-05266-0
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00