Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients.
D000293:Adolescent; D000328:Adult; D000581:Amidohydrolases / Q000652:urine*; D001224:Aspartic Acid / Q000652:urine*; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D005387:Finland; D005808:Genes, Recessive; D005944:Glucosamine / Q000652:urine*; D006720:Homozygote; D006801:Humans; D002479:Inclusion Bodies; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008214:Lymphocytes; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D010007:Osteochondritis / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome
D001224:Aspartic Acid; D000581:Amidohydrolases; D005944:Glucosamine