Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings

Chermaine D Antony¹, Meow-Keong Thong², Kartini Rahmat¹, Roziah Muridan^1
1 Department of Biomedical Imaging, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
² Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

Correspondence Address:
Kartini Rahmat
Department of Biomedical Imaging, Faculty of Medicine, University of Malaya, Kuala Lumpur - 50603
Malaysia

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/neuroindia.NI_1121_15