Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 183 publications
A new era of integration of genetics and neurology.
Journal: Current opinion in pediatrics
Published: July 30, 2026
Impaired task-dependent cerebral cortex oxygenation in Glut1 deficiency.
Journal: Frontiers in neuroscience
Published: March 24, 2026
Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.
Journal: PLoS genetics
Published: February 03, 2026
Brain imaging as a prognostic biomarker in urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: January 23, 2026
Predicting epistasis across proteins by structural logic.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 16, 2026
Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.
Journal: Scientific reports
Published: December 09, 2025
fNIRS insights into brain biomarkers of maple syrup urine disease (MSUD).
Journal: Molecular genetics and metabolism
Published: November 14, 2025
Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.
Journal: Journal of child neurology
Published: November 12, 2025
Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.
Journal: Metabolic brain disease
Published: October 29, 2025
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.
Journal: Journal of inherited metabolic disease
Published: August 26, 2025
Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY.
Journal: Frontiers in endocrinology
Published: August 19, 2025
Last Updated: 09/26/2026