[Clinical and biochemical study of some hereditary metabolic diseases with nervous system lesions].
D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005260:Female; D005776:Gaucher Disease / Q000235:genetics; D006025:Glycosaminoglycans / Q000378:metabolism*; D006712:Homocystinuria / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007592:Joint Diseases / Q000235:genetics*; D004204:Joint Dislocations; D008064:Lipidoses / Q000235:genetics; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009083:Mucopolysaccharidoses / Q000235:genetics; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009542:Niemann-Pick Diseases / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014953:Wrist / Q000002:abnormalities*
D006025:Glycosaminoglycans
Klinicheskoe i biokhimicheskoe izuchenie nekotory nasledtvennykh bolezneĭ obmena veshchestv s porazheniem nervnoĭ sistemy.