Niemann-Pick disease types A and B
Dec. 20, 2019
Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
P = pathogenic, LP = likely pathogenic, UOA = urine organic acids, VLCFA = very long chain fatty acids. (From: Vanderver A, Bernard G, Helman G, et al. Randomized clinical trial of first-line genome sequencing in pediatric white matter disorders. Ann Neurol 2020;88(1):264-73.)