New: the largest D-bifunctional protein deficiency cohort in nearly 20 years

Neonatal encephalopathy remains typical, but adult survival is possible even in neonatal-onset cases

And importantly: normal/mild VLCFAs don't rule out DBP-D.
doi.org/10.1002/jimd...
#DBPD #Peroxisomal #RareDisease #JIMD