Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Melanie B. Gillingham, et al
https://doi.org/10.1002/jimd.12738
