title: Toddler with retinal defects. . .psychomotor regression. Sandhoff disease.
authors.forename: Rita
authors.initials: R
authors.lastname: Couceiro
authors.forename: Ana
authors.initials: A
authors.lastname: Fonseca
authors.forename: Fátima
authors.initials: F
authors.lastname: Campos
mesh_terms: D003711:Demyelinating Diseases / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009901:Optic Nerve Diseases / Q000175:diagnosis; D011596:Psychomotor Disorders / Q000175:diagnosis*; D011681:Pupil Disorders / Q000175:diagnosis; D012164:Retinal Diseases / Q000097:blood / Q000175:diagnosis*; D012497:Sandhoff Disease / Q000097:blood / Q000175:diagnosis*; D054820:beta-Hexosaminidase alpha Chain / Q000097:blood; D054821:beta-Hexosaminidase beta Chain / Q000097:blood
chemical_list: D054820:beta-Hexosaminidase alpha Chain; D054821:beta-Hexosaminidase beta Chain