Phosphoribosylformylglycinamidine Synthase ( PFAS ) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis
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Wiley Open Access
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| Main Authors: | , , , , , , , , , |
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| Format: | Artículo Open Access |
| Published: |
Wiley
2025
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| Subjects: | |
| Online Access: | |
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