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Updated: May 12, 2026

Sublimation of DAN Matrix for the Detection and Visualization of Gangliosides in Rat Brain Tissue for MALDI Imaging Mass Spectrometry
Published on: March 23, 2017
GM1gangliosidosis: Clinical and radiological clue to diagnosis
Renu Suthar1, Jitendra K Sahu, Pratibha Singhi
1Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Abstract:
GM1gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by deficiency of enzyme β-galactosidase, resulting in progressive neural and visceral accumulation of GM1gangliosides. Coarse facial features, bilateral cherry red spots, and dysostosis multiplex are important clue to diagnose this condition. We describe a case of GM1gangliosidosis with dysostosis multiplex and characteristic magnetic resonance imaging findings.
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