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Bridget Blevins

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Review Open access Aug 2026

Phenotype variability in six new patients with beta-mannosidosis.

Beta-mannosidosis is a lysosomal storage disorder caused by pathogenic variants in the MANBA gene, resulting in deficiency of beta-mannosidase. This enzyme is essential for terminal glycoprotein degradation within lysosomes, and its deficiency leads to glycoprotein accumulation in the brain and other organs. Clinical m...

Madelyn Olivas, C.N. Romano, Angela Martin et al. · 0 citations

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