Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Hyperphenylalaninemia Due To A Deficiency of Biopterin
NEJM 299:673-679, Stanley,S.K.,et al, 1978