PEROXISOMAL DISORDERS - A REVIEW

被引:124
作者
WANDERS, RJA
SCHUTGENS, RBH
BARTH, PG
机构
[1] UNIV HOSP AMSTERDAM,ACAD MED CTR,DEPT CLIN CHEM,1100 DE AMSTERDAM,NETHERLANDS
[2] UNIV HOSP AMSTERDAM,ACAD MED CTR,DEPT NEUROL,1100 DE AMSTERDAM,NETHERLANDS
关键词
ADRENOLEUKODYSTROPHY; CHOLESTEROL; FATTY ACIDS; PEROXISOMES; ZELLWEGER SYNDROME;
D O I
10.1097/00005072-199509000-00016
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The peroxisomal disorders represent a group of inherited diseases in man in which there is an impairment in one or more peroxisomal functions. The disorders known up to now are usually subdivided into three groups depending upon whether there is a more generalized, multiple or single loss of peroxisomal functions. In this paper we will briefly describe the peroxisomal disorders known thus far with the biochemical abnormalities identified. Furthermore, we will describe a straightforward approach for the postnatal identification of patients suspected to suffer from a peroxisomal disorder which is of great importance since reliable prenatal diagnostic methods have become available for each of these disorders.
引用
收藏
页码:726 / 739
页数:14
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