Expanding the phenotype spectrum of β-mannosidosis
Angela M. Martin Rios, Karolina M. Stępień, Liliane Gibbs, Katherine Hall, Patricia Hall, Gisele Bentz Pino, Raymond Wang, Nishitha R. Pillai, Troy C. Lund, Paul J. Orchard, Virginia E. Kimonis
The paper expands the clinical, biochemical, and brain imaging phenotype spectrum of β-mannosidosis by analyzing 44 patients and describing new features and genetic variants.
Neurology Genetics · Nov 7, 2025Peer-reviewedGenetic & Genomic Medicine