Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.
Authors: Toledo-Pacheco C, Montero-Hernández M, López-Garrido MP, de Diego-Boguñá C, Sánchez-Sánchez F
Journal: International journal of molecular sciences
family therapy
mental health
open access