Four patients with a new lysosomal storage disorder (Salla disease).
D000328:Adult; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D006867:Hydrolases / Q000378:metabolism*; D008607:Intellectual Disability / Q000235:genetics*; D008247:Lysosomes / Q000201:enzymology* / Q000648:ultrastructure; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D012867:Skin / Q000201:enzymology / Q000648:ultrastructure
D006867:Hydrolases