Genetics in Medicine Open

P049: Prenatal diagnosis of hypophosphatasia and long-term outcomes following early neonatal asfotase alfa treatment

Pub Date : 2026-01-01 DOI: 10.1016/j.gimo.2026.103540 Megan Raymond , Plamena Simeonova , Amy Patterson , Julie Hoover-Fong

P046: Expanding clinical insight Into N-acetylglutamate synthase (NAGS) deficiency: A case report of diagnosis, treatment and long-term management

Pub Date : 2026-01-01 DOI: 10.1016/j.gimo.2026.103537 Eran Tallis , Lindsay Adamczak , Jessica Briggs , Jillian Soler

O09: Sepiapterin responsiveness over 14 days in children and adults with phenylketonuria: Pooled results from three phase 3 clinical trials

Pub Date : 2026-01-01 DOI: 10.1016/j.gimo.2026.104294 Melissa Lah , Nicola Longo , Maria Giżewska , Janet Thomas , Amaya Bélanger-Quintana , Ida Vanessa Schwartz , Heidi Peters , Kimberly Ingalls , Zhenming Zhao , Neil Smith , Ania Muntau