TY - GEN AU - Matsui,Shuji AU - Funahashi,Masuko AU - Honda,Ayako AU - Shimozawa,Nobuyuki TI - Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene SN - 1872-7131 PY - 2014///0423 KW - Adult KW - Brain KW - pathology KW - Catalase KW - genetics KW - Fibroblasts KW - metabolism KW - Genetic Predisposition to Disease KW - Homozygote KW - Humans KW - Lipoproteins KW - Male KW - Membrane Proteins KW - Mutation KW - Peroxins KW - Peroxisomal Disorders KW - diagnosis KW - Phenotype N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1016/j.braindev.2012.10.017 ER -