Acta Paediatrica, International Journal of Paediatrics 1994-Aug
Carbohydrate-deficient glycoprotein syndrome with previously unreported features.
Straipsnius versti gali tik registruoti vartotojai
Prisijungti Registracija
Nuoroda įrašoma į mainų sritį
Raktažodžiai
Santrauka
A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.