OBJECTIVE
To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes.
DESIGN
Review of medical records.
SETTING
Specialized Genetic Center.
PARTICIPANTS
432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs).
METHODS
Plasma chitotriosid...
