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Evidence for autosomal recessive inheritance in systemic carnitine deficiency.

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

相似文献

1
Evidence for autosomal recessive inheritance in systemic carnitine deficiency.
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2
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A case history of myopathic carnitine deficiency benefited by glucocorticoids and L-carnitine supplementation.一例通过补充糖皮质激素和左旋肉碱受益的肌病性肉碱缺乏症病史。
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Primary carnitine deficiency in a male adult.一名成年男性的原发性肉碱缺乏症
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引用本文的文献

1
[Serum levels and urine excretion of L-carnitine in patients with normal and impaired kidney function].[肾功能正常和受损患者的血清左旋肉碱水平及尿排泄情况]
Klin Wochenschr. 1984 Mar 15;62(6):274-7. doi: 10.1007/BF01721888.
2
Carnitine metabolism and inborn errors.
J Inherit Metab Dis. 1984;7 Suppl 1:38-43. doi: 10.1007/BF03047372.
3
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.
4
l-Carnitine. A preliminary review of its pharmacokinetics, and its therapeutic use in ischaemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism.左旋肉碱。对其药代动力学、在缺血性心脏病中的治疗应用以及与脂肪酸代谢作用相关的原发性和继发性肉碱缺乏症的初步综述。
Drugs. 1987 Jul;34(1):1-24. doi: 10.2165/00003495-198734010-00001.
5
Myopathies due to enzyme deficiencies.酶缺乏所致的肌病
J Neurol. 1985;232(6):329-40. doi: 10.1007/BF00313831.