Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
Abstract Background Implementation of long-chain fatty acid oxidation defects (LCFAOD) in newborn screening (NBS) programs allows for pre-symptomatic diagnosis and treatment. The long-term natural history of NBS LCFAOD patients is largely unknown and may differ from clinically diagnosed pre-NBS pati...
Gorde:
| Egile Nagusiak: | , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMC
2024-01-01
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| Saila: | Orphanet Journal of Rare Diseases |
| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1186/s13023-024-03024-0 |
| Etiketak: |
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