Evaluation of the metabolic defect in metachromatic leukodystrophy (MLD).
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000378:metabolism*; D002554:Cerebrosides / Q000378:metabolism*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism*; D005260:Female; D006801:Humans; D008055:Lipids / Q000302:isolation & purification; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D013431:Sulfates / Q000097:blood / Q000652:urine; D013433:Sulfoglycosphingolipids / Q000378:metabolism; D013460:Sulfur Isotopes
D002554:Cerebrosides; D008055:Lipids; D013431:Sulfates; D013433:Sulfoglycosphingolipids; D013460:Sulfur Isotopes