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

Authors	Chermaine D Antony, Meow-Keong Thong, Kartini Rahmat, Roziah Muridan
Journal	Neurology India (Neurol India) 2017 Vol. 65 Issue Supplement Pg. S98-S100 ISSN: 0028-3886 [Print] India
PMID	28281504 (Publication Type: Case Reports, Letter)
Chemical References	beta-N-Acetylhexosaminidases
Topics	Brain (pathology) Humans Infant Magnetic Resonance Imaging (methods) Male Mutation (genetics) Sandhoff Disease (diagnosis, genetics, pathology) Siblings beta-N-Acetylhexosaminidases (genetics)

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