Peroxisomal acyl CoA oxidase deficiency

被引：29

作者：

Suzuki, Y

Iai, M

Kamei, A

Tanabe, Y

Chida, S

Yamaguchi, S

Zhang, ZY

Takemoto, Y

Shimozawa, N

Kondo, N

机构：

[1] Gifu Univ, Sch Med, Med Educ Dev Ctr, Gifu 50085705, Japan

[2] Gifu Univ, Sch Med, Dept Pediat, Gifu 50085705, Japan

[3] Chiba Childrens Hosp, Div Neurol, Chiba, Japan

[4] Kanagawa Childrens Med Ctr, Div Neurol, Kanagawa, Japan

[5] Iwate Med Univ, Dept Pediat, Morioka, Iwate, Japan

[6] Shimane Med Univ, Dept Pediat, Izumo, Shimane 693, Japan

来源：

JOURNAL OF PEDIATRICS | 2002年 / 140卷 / 01期

关键词：

D O I：

10.1067/mpd.2002.120511

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 pontomedullary corticospinal tracts and in the cerebellar and cerebral white matter. Molecular investigations revealed 2 novel missense mutations, M278V and G178C.

引用

页码：128 / 130

页数：3

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