Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
AJNR 19:1628-1630, Chen,C-Y.,et al, 1998
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991