Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Unrecognized Adult Phenylketonuria
NEJM 289:395, 1973, 289:1040, 1973, 290:1084., Perry,T.,et al, 1974
Pediatric Neurology
Psych Annals 2:1, , 1972
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Detection of Phenylketonuria in Autistic & Psychotic Children
JAMA 243:126-128, Lowe,T.L.,et al, 1980