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Updated: May 21, 2025

12:06
Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
Published on: November 25, 2017
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Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report
Kundan Kumar Yadav1, Milan Pokhrel1, Geeta Bashyal2
1Maharajgunj Medical Campus Institute of Medicine, Tribhuvan University Kathmandu Nepal.
Clinical Case Reports
|March 19, 2025
Abstract:
This report presents a 13-year-old male with abnormal body movements, generalized body weakness, and developmental regression who was further evaluated to conclude type 2 Sialidosis as the diagnosis. Genetic testing is key in diagnosing such rare conditions, and management is difficult, particularly in resource-limited settings.
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