title: Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay.
authors.forename: Kalpathy S
authors.initials: KS
authors.lastname: Krishnamoorthy
authors.forename: Florian
authors.initials: F
authors.lastname: Eichler
authors.forename: Otto
authors.initials: O
authors.lastname: Rapalino
authors.forename: Matthew P
authors.initials: MP
authors.lastname: Frosch
mesh_terms: D020643:Anterior Thalamic Nuclei / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology*; D002658:Developmental Disabilities / Q000209:etiology*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005678:G(M2) Ganglioside; D006801:Humans; D007223:Infant; D016464:Lysosomal Storage Diseases / Q000175:diagnosis; D009154:Mutation; D013216:Reflex, Startle; D013661:Tay-Sachs Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D005678:G(M2) Ganglioside