Episodic hyperCKaemia may be a feature of alpha-methylacyl-coenzyme A racemase deficiency

Krett B.; Straub V.; Vissing J.

首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Episodic hyperCKaemia may be a feature of alpha-methylacyl-coenzyme A racemase deficiency

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Episodic hyperCKaemia may be a feature of alpha-methylacyl-coenzyme A racemase deficiency

机译：情节型血统血症可能是α-甲基 - 辅酶的一个特征，即成状酶缺乏

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摘要

alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare disorder, affecting peroxisomal metabolism of pristanic acid, with ten published adult cases. We describe an AMACR deficiency case with a clinical presentation dominated by episodic hyperCKaemia, suggesting that myopathic features of AMACR should be considered.

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《European journal of neurology: the official journal of the European Federation of Neurological Societies》 |2021年第2期|共3页
作者
Krett B.; Straub V.; Vissing J.;
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作者单位

Univ Copenhagen Dept Neurol Copenhagen Neuromuscular Ctr Rigshosp Copenhagen Denmark;

Newcastle Univ John Walton Muscular Dystrophy Res Ctr Translat &

Clin Res Inst Newcastle Upon;

Univ Copenhagen Dept Neurol Copenhagen Neuromuscular Ctr Rigshosp Copenhagen Denmark;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
关键词
hyperCKaemia; amp; 945; amp; 8208; methylacylamp; 8208; CoA racemase (AMACR) deficiency; muscular diseases; myopathy; rhabdomyolysis;

机译：血统;＆amp;945;＆amp;8208;甲基酰基＆amp;8208;COA成分状酶（AMACR）缺乏;肌肉疾病;肌病;曲囊;横纹肌溶解;

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Episodic hyperCKaemia may be a feature of alpha-methylacyl-coenzyme A racemase deficiency

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