Obstetric Ultrasound/FE Scientific and Case Report Session 1
Severe Neonatal Multiple Sulfatase Deficiency Caused by Homozygous SUMF1 Gene Mutation
Monday, April 8, 2024
9:02am – 9:09am
Location: 410
Authors: Michael Gembicki, University Hospital of Schleswig-Holstein, Campus Luebeck Amrei Welp, University Clinic of Schleswig-Holstein, Campus Luebeck Jann Lennard Scharf, University Hospital of Schleswig-Holstein, Campus Lübeck Christoph Dracopoulos, University Hospital of Schleswig-Holstein, Campus Luebeck Jan Weichert, University Hospital of Schleswig-Holstein ,
Rare and severe lysosomal storage disease with cerebral and bony malformations leading to early infant death.