P004: Expanding the clinical and functional spectrum of NUS1-CDG: Insights from systematic phenotyping using NPCRS and ICARS*
Abstract
Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic diseases caused by defects in protein and lipid glycosylation, including abnormalities in the biosynthesis, processing, or trafficking of glycans. More than 180 genes and over 200 distinct CDG subtypes have been described, with manifestations spanning neurological, musculoskeletal, ocular, gastrointestinal, cardiovascular, dermatological, endocrine, hematological, immunological, renal, dental, and psychiatric systems.
Fields of Study & Subjects
Lysosomal Storage Disorders Research
Glycogen Storage Diseases and Myoclonus
Glycosylation and Glycoproteins Research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103495–103495
- Publication date
- 1 January 2026
- Language
- EN