[Progress in the diagnosis of congenital metabolic central nervous system diseases. Review].
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000209:etiology; D005776:Gaucher Disease / Q000175:diagnosis; D005815:Genetic Code; D006025:Glycosaminoglycans / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000209:etiology; D009083:Mucopolysaccharidoses / Q000235:genetics; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis; D009542:Niemann-Pick Diseases / Q000175:diagnosis; D011296:Prenatal Diagnosis
D006025:Glycosaminoglycans
Pokroky v diagnostice vrozených metabolic-kých onemocnĕní CNS. Souborný referát.