Enzymatic and biochemical diagnosis of inborn lysosomal diseases with neurological symptoms.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000201:enzymology; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D008064:Lipidoses / Q000175:diagnosis / Q000201:enzymology; D008247:Lysosomes / Q000378:metabolism*; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000201:enzymology; D009461:Neurologic Manifestations
D006025:Glycosaminoglycans