Cerebrotendinous xanthomatosis. Case report.
Bacchi
O
O
Unità Organica di Neurologia-Foligno.
Stefanucci
S
S
Brustenghi
P L
PL
Pagliacci
A
A
Bellanti
G M
GM
D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D002386:Cataract / Q000175:diagnosis; D002524:Cerebellar Ataxia / Q000175:diagnosis; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D009682:Magnetic Resonance Spectroscopy; D008875:Middle Aged; D009135:Muscular Diseases / Q000175:diagnosis; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis; D014973:Xanthomatosis / Q000175:diagnosis*