Genetic & Genomic MedicineHuman Molecular GeneticsPeer-reviewed
NGLY1 Deficiency: A Prospective Natural History Study (NHS)
Sandra Tong-Starksen, Pamela E. Ventola, Christina H. Frater…·Kevin J. Lee
This study tracks the clinical progression of NGLY1 Deficiency in 29 patients over 32 months, identifying key symptoms and biomarkers for future trial endpoints.