Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
Arch Neurol 54:1536-1541, Lossos,A.,et al, 1997
An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981
Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Evaluation of Cerebral Biopsies for the Diagnosis of Dementia
Arch Neurol 49:28-31, Hulette,C.M.,et al, 1992
Adult Sphingomyelinase Deficiency:Report of 2 Patients who Initially Presented with Psychiatric Disorders
Neurol 40:132-136, Dubois,G.,et al, 1990