摘要
代谢共济失调是罕见的。 他们通常开始于儿童期,多为常染色体隐性遗传。他们也可能出现在青年期。对于代谢共济失调的诊断是非常重要的,因为有些病人可以通过饮食调节和治疗而痊愈。
关键词: 成人代谢共济失调,铜贮,能量代谢缺陷,过氧化物酶病,贮积病,维生素E 缺乏病
Current Molecular Medicine
Title:Metabolic Ataxias in Adults
Volume: 14 Issue: 8
Author(s): A. Antenora, A. Filla, F.M. Santorelli, S. Peluso, F. Sacca and G. De Michele
Affiliation:
关键词: 成人代谢共济失调,铜贮,能量代谢缺陷,过氧化物酶病,贮积病,维生素E 缺乏病
摘要: Metabolic ataxias are rare. They usually start in the childhood and often have autosomal recessive inheritance. They may also present in adulthood. The diagnosis is important since some patients may be successfully managed with diet and treatments.
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Cite this article as:
Antenora A., Filla A., Santorelli F.M., Peluso S., Sacca F. and Michele De G., Metabolic Ataxias in Adults, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010131213
DOI https://dx.doi.org/10.2174/1566524014666141010131213 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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