Expanded newborn screening (NBS) leads to early diagnosis and treatment in children with Cobalamin C disease (CblC) and aids in identifying and treating presymptomatic affected family members (P4.6-068)

• DOI: 10.1212/wnl.92.15_supplement.p4.6-068
• Publication Date: 2023-12-07T09:59:43Z
• Authors: Isabella Herman; Maureen Handoko; Lisa Emrick

To describe a series of patients with CblC varying ages symptom onset, diagnosis, and initiation treatment, highlighting the importance expanded NBS in early diagnosis treatment children CblC.