Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978