| Literature DB >> 11815777 |
Yasuyuki Suzuki1, Mizue Iai, Atsushi Kamei, Yuzo Tanabe, Shoichi Chida, Seiji Yamaguchi, Zhongyi Zhang, Yasuhiko Takemoto, Nobuyuki Shimozawa, Naomi Kondo.
Abstract
Three Japanese patients with peroxisomal acyl coenzyme A oxidase deficiency who manifested psychomotor retardation and regression during the late infantile period showed characteristic patterns of demyelination in the ponto- medullary corticospinal tracts and in the cerebellar and cerebral white matter. Molecular investigations revealed 2 novel missense mutations, M278V and G178C.Entities:
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Year: 2002 PMID： 11815777 DOI： 10.1067/mpd.2002.120511
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406