Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

► Clinical, biochemical, molecular information on six patients with Krabbe disease. ► One patient presented with hydrocephalus. ► Retrospective galactocerebrosidase analysis in NBS samples stored up to 13 years. ► NBS test demonstrated 100% sensitivity and specificity. ► Five previously unreported mutations and 2 novel variants identified in GALC gene.