Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 6 publications
Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing.
Journal: JHEP reports : innovation in hepatology
Published: October 26, 2025
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Journal: JAMA
Published: October 24, 2024
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
Journal: JPEN. Journal of parenteral and enteral nutrition
Published: July 09, 2020
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Journal: American journal of human genetics
Published: August 16, 2017
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Journal: Epilepsia
Published: December 10, 2014
Costly choices for treating Wilson's disease.
Journal: Hepatology (Baltimore, Md.)
Published: August 22, 2014
Showing 1-6 of 6
Last Updated: 09/26/2026