1.
J Child Neurol
; 9(4): 408-11, 1994 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-7822734
RESUMO
A 7-year-old girl presented with a language disorder reminiscent of verbal auditory agnosia. Later, she proved to have defective N-acetylglucosamine-6-sulfate sulfatase, the enzyme deficient in Sanfilippo D syndrome. She did not show clinical features of mucopolysaccharidosis. The language disorder had a fluctuating course, which eventually evolved into a progressive dementing encephalopathy.