Nine-year-old girl presenting familial occurrence of progressive developmental abnormalities with the white matter lesions.
Hayashi
Masaharu
M
Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan. mahayasi@tmin.ac.jp
D001921:Brain / Q000378:metabolism / Q000473:pathology*; D001923:Brain Chemistry; D002553:Cerebroside-Sulfatase / Q000032:analysis / Q000172:deficiency; D002554:Cerebrosides / Q000032:analysis; D002648:Child; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D013433:Sulfoglycosphingolipids / Q000032:analysis
D002554:Cerebrosides; D013433:Sulfoglycosphingolipids; D002553:Cerebroside-Sulfatase