[Problems in the diagnosis of hereditary metabolic defects in pediatric neurology].
The authors have elaborated a program of selective screening of hereditary metabolic defects (HMD) ensuring the identification of over 100 disease entities as well as a program of the biochemical diagnosis and prophylaxis of mucopolysaccharidoses. More than 3000 patients who applied for help to the medical-genetic consultative centre were examined. Data on the incidence and genogeography of HMD were obtained.
D005817:Genetic Counseling; D006801:Humans; D008403:Mass Screening / Q000379:methods*; D008661:Metabolism, Inborn Errors / Q000517:prevention & control*; D009083:Mucopolysaccharidoses / Q000517:prevention & control; D014586:USSR
Problemy diagnostiki nasledstvennykh defektov obmena veshchestv v detskoĭ nevrologii.