Review
Open access
Oct 2026
Alder–Reilly Anomaly Leading to Incidental Diagnosis of MPS VII in an Asymptomatic Adult
ABSTRACT Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of β‐glucuronidase due to pathogenic variants in the GUSB gene. Impaired degradation of glycosaminoglycans (GAGs) results in multiorgan dysfunction with highly variable clinical...
M. Roemer, Monique Chevallier, M. van Dijk et al.
· JIMD Reports · 0 citations