Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Wilson Disease
NIDDK Oct2018, , 2018
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
Inherited Metabolic Diseases of the Nervous System, Galactosemia
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
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
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Clinicalpathologic Conference, Vitamin B12 Deficiency due to Pernicious Anemia
NEJM 366:1626-1633, Case 13-2012, 2012
Cerebellar Symptoms as Presenting Manifest of Bilirubin Encephal in Children with Crigler-Najjar Type I Disease
Pediatrics 89:768-770, Labrune,P.H.,et al, 1992
Carbamazepine Side Effects in Children and Adults
Pellock. J. M. , Epilepsia 28:S64-S707., , 1987
A Progressive Neurologic Syndrome In Children With Chronic Liver Disease
NEJM 304:503-508, Rosenblum,J.L.,et al, 1981
Late Onset of Wilson's Disease
Arch Neurol 38:729-730, Czlonkowska,A.,et al, 1981
Clinical & Biochemical Aspects of Trichopoliodystrophy
Ann Neurol 5:65-71, Grover,W.D.,et al, 1979