title: Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.
authors.affiliation: Department of Biomedical Imaging, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Chermaine D
authors.initials: CD
authors.lastname: Antony
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Meow-Keong
authors.initials: MK
authors.lastname: Thong
authors.affiliation: Department of Biomedical Imaging, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Kartini
authors.initials: K
authors.lastname: Rahmat
authors.affiliation: Department of Biomedical Imaging, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Roziah
authors.initials: R
authors.lastname: Muridan
mesh_terms: D001921:Brain / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D012497:Sandhoff Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D035781:Siblings; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D001619:beta-N-Acetylhexosaminidases