Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort
This cohort/real-world study was triaged for T9 - Rare Diseases based on abstract review. It appears high priority because it addresses a direct clinical or diagnostic question with moderate evidence maturity.
This cohort/real-world study was triaged for T9 - Rare Diseases based on abstract review. It appears high priority because it addresses a direct clinical or diagnostic question with moderate evidence maturity.
What the study was
- Study design
- Cohort/real-world study
- Sample size
- 15
- Maturity
- Validated
- Journal
- Molecular genetics and metabolism
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.