- Case Report
Multi-Omics Characterization of a Novel SSR4 Variant in Congenital Disorders of Glycosylation
- Nurulamin Abu Bakar,
- Nurul Izzati Hamzan,
- Elyssa Milus Majawit,
- Siti Nurwani Ahmad Ridzuan,
- Noor Hafizah Hassan,
- Anasufiza Habib and
- Lock-Hock Ngu
Background: Congenital disorders of glycosylation (CDG) are rare inborn errors of metabolism with multisystemic manifestations. SSR4-CDG is an ultra-rare X-linked subtype caused by pathogenic variants in SSR4, a component of the translocon-associated...

