Readable research linked to original sources
Articles
Browse normalized, publication-ready research with direct links to its evidence and source.
Loading articles data…
Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
Loading articles data…
Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
1 articles
Newest firstCongenital biotinidase deficiency (CBD) is an uncommon inborn error of metabolism (IEM) that frequently manifests in infancy. Clinical manifestations vary from alopecia rash to severe neurological features like hypotonia, seizures, and developmental delay. Typical imaging manifestations will have symmetric restricted diffusion in the corona radiata, perirolandic white matter, posterior limb of the internal capsule…
Open article record in new tab ↗