Title : Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.

Pub. Date : 2020 Aug 1

PMID : 32752208






1 Functional Relationships(s)
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1 Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. N-Acetylneuraminic Acid neuraminidase 1 Homo sapiens