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Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system.

作者信息

Christensen E, Vikre-Jørgensen J

机构信息

University Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.

出版信息

J Inherit Metab Dis. 1995;18(2):233-6. doi: 10.1007/BF00711776.

DOI:10.1007/BF00711776
PMID:7564256
Abstract
摘要

相似文献

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J Clin Med. 2021 Oct 22;10(21):4855. doi: 10.3390/jcm10214855.
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Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

本文引用的文献

1
Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency.
In Vitro. 1982 May;18(5):495-500. doi: 10.1007/BF02796479.
2
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts.由于肾脏、肌肉和成纤维细胞中肉碱转运功能障碍导致的原发性肉碱缺乏症。
N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006.
3
Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.
Eur J Pediatr. 1988 Aug;147(6):662-3. doi: 10.1007/BF00442488.
4
法罗群岛的肉碱转运体和全羧化酶合成酶缺乏症
J Inherit Metab Dis. 2007 Jun;30(3):341-9. doi: 10.1007/s10545-007-0527-9. Epub 2007 Apr 6.
4
Carnitine deficiency-induced cardiomyopathy.肉碱缺乏所致心肌病
Mol Cell Biochem. 1998 Mar;180(1-2):33-41.
5
Disorders of mitochondrial long-chain fatty acid oxidation.线粒体长链脂肪酸氧化紊乱
J Inherit Metab Dis. 1995;18(4):473-90. doi: 10.1007/BF00710058.
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.原发性系统性肉碱缺乏症中皮肤成纤维细胞肉碱摄取受损，表现为儿童期肉碱反应性心肌病。
Pediatr Res. 1990 Sep;28(3):247-55. doi: 10.1203/00006450-199009000-00020.
5
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.患有肉碱摄取缺陷的儿童的慢性心肌病和虚弱或急性昏迷。
Ann Neurol. 1991 Nov;30(5):709-16. doi: 10.1002/ana.410300512.
6
Effects of pivalic acid-containing prodrugs on carnitine homeostasis and on response to fasting in children.
Scand J Clin Lab Invest. 1992 Sep;52(5):361-72. doi: 10.3109/00365519209088371.
7
An improved and simplified radioisotopic assay for the determination of free and esterified carnitine.一种用于测定游离和酯化肉碱的改进型简化放射性同位素测定法。
J Lipid Res. 1976 May;17(3):277-81.