Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers
Abstract Inherited metabolic disorders (IMDs) are classified under rare genetic diseases almost always presenting in newborn and infants. IMDs are classified according to the clinical presentation, diagnosis and prognosis. Several factors are involved in the IMDs pathogenesis. Moreover, almost all I...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03979-8 |
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