Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983