Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.
Coulter-Mackie
M B
MB
Department of Pediatrics, University of British-Columbia, Vancouver, Canada.
Rip
J
J
Ludman
M D
MD
Beis
J
J
Cole
D E
DE
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
D017931:DNA Primers; D012333:RNA, Messenger; D001192:Arylsulfatases