HIGHLIGHTS
- who: Mizuki Kobayashi from the (UNIVERSITY) have published the paper: A Japanese patient with neonatal biotin-responsive basal ganglia disease, in the Journal: (JOURNAL) of 29/09/2022
- what: The authors report a neonatal case of BBGD in which treatment with biotin and thiamine improved clinical symptoms and reduced further deterioration.
SUMMARY
Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive disorder that causes catastrophic subacute metabolic encephalopathy1-3. BBGD includes a wide variety of neurological phenotypes, including early-infantile Leigh-like encephalopathy, classic recurrent subacute encephalopathy, and adult-onset . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.