title: Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.
authors.affiliation: Department of Pediatrics, University of British-Columbia, Vancouver, Canada.
authors.forename: M B
authors.initials: MB
authors.lastname: Coulter-Mackie
authors.forename: J
authors.initials: J
authors.lastname: Rip
authors.forename: M D
authors.initials: MD
authors.lastname: Ludman
authors.forename: J
authors.initials: J
authors.lastname: Beis
authors.forename: D E
authors.initials: DE
authors.lastname: Cole
mesh_terms: D001192:Arylsulfatases / Q000172:deficiency* / Q000235:genetics; D001483:Base Sequence; D015139:Blotting, Southern; D002478:Cells, Cultured; D002892:Chromosomes, Human, Pair 22; D017931:DNA Primers; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger; D015183:Restriction Mapping; D012303:Ring Chromosomes; D014158:Transcription, Genetic
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D001192:Arylsulfatases