Evidence for autosomal recessive inheritance in systemic carnitine deficiency.

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作者信息

Di Donato S, Rimoldi M, Cornelio F, Bottacchi E, Giunta A

出版信息

Ann Neurol. 1982 Feb;11(2):190-2. doi: 10.1002/ana.410110214.

DOI:10.1002/ana.410110214

PMID:7073250

Abstract

摘要

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引用本文的文献

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Carnitine metabolism and inborn errors.

J Inherit Metab Dis. 1984;7 Suppl 1:38-43. doi: 10.1007/BF03047372.

Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.家族性肉碱缺乏症：常染色体隐性遗传伴可变表达的进一步证据。

J Neurol Neurosurg Psychiatry. 1988 Feb;51(2):298-300. doi: 10.1136/jnnp.51.2.298.

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