Claudia Toledo-Pacheco

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1CO-AUTHORS
Metabolic medicine
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Publications (1)

|Aug 13, 2026
Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.

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Frequent Collaborators

1 joint publications

Carles de Diego-Boguñá