Genetic & Genomic MedicineNeurology GeneticsPeer-reviewed
Expanding the phenotype spectrum of β-mannosidosis
Angela M. Martin Rios, Karolina M. Stępień, Liliane Gibbs…·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.
5 citations