Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis
Abstract Inherited Metabolic Disorders (IMDs) constitute a varied group of genetic disorders marked by disruptions in essential molecule metabolism, resulting in diverse clinical manifestations. Early diagnosis and prompt intervention are critical for optimal disease management and the prevention of...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2026-01-01
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| Serie: | Orphanet Journal of Rare Diseases |
| Accesso online: | https://doi.org/10.1186/s13023-026-04208-6 |
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