title: Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease.
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad ICESI, Cali, Colombia.
authors.forename: L J
authors.initials: LJ
authors.lastname: Posso Gomez
authors.affiliation: Fundación Clínica Valle de Lili, Cali, Colombia.
authors.forename: J F
authors.initials: JF
authors.lastname: Gomez
authors.affiliation: Fundación Clínica Valle de Lili, Cali, Colombia.
authors.forename: V
authors.initials: V
authors.lastname: Botero
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad ICESI, Cali, Colombia; Fundación Clínica Valle de Lili, Cali, Colombia. Electronic address: hmpachajoa@icesi.edu.co.
authors.forename: H
authors.initials: H
authors.lastname: Pachajoa
mesh_terms: D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D003105:Colombia; D005260:Female; D054818:Hexosaminidase A / Q000097:blood; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009186:Myelin Sheath / Q000473:pathology; D013661:Tay-Sachs Disease / Q000097:blood / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology
chemical_list: D006596:Hexosaminidases; D054818:Hexosaminidase A