Article

Expanding the phenotype spectrum of β-mannosidosis

2025-01-15

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To expand the spectrum of clinical and biochemical phenotypes, and brain imaging features of individuals with β-mannosidosis, a rare lysosomal storage disease. <h4>Methods</h4> We describe the clinical features of six patients with β-mannosidosis, their findings on brain magnetic resonance imaging (MRI), and the changes over time in two of them. We also review previously reported...

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Literature Corpus work: a90bd272-890a-547a-93ca-db21d0408470
DOI: 10.1101/2025.01.13.24316445

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