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Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.

作者信息

Briones P, Garavaglia B, Ribes A, Yoldi M E, Rodés M, Romero C, García-Bragado F

机构信息

CSIC, Barcelona, Spain.

出版信息

J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777.

DOI:10.1007/BF00711777
PMID:7564257
Abstract
摘要

相似文献

1
Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.
J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777.
2
Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system.
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Letter: Inborn error of carnitine metabolism ("carnitine deficiency") in man.信函：人类肉碱代谢先天性缺陷（“肉碱缺乏症”）
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Primary and secondary carnitine deficiency in man.
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Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.
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A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.一例伴有热休克蛋白60含量降低的多重线粒体酶缺陷新病例。
J Inherit Metab Dis. 1997 Aug;20(4):569-77. doi: 10.1023/a:1005303008439.
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Disorders of mitochondrial long-chain fatty acid oxidation.线粒体长链脂肪酸氧化紊乱
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本文引用的文献

1
Renal handling of carnitine in secondary carnitine deficiency disorders.继发性肉碱缺乏症中肾脏对肉碱的处理
Pediatr Res. 1993 Jul;34(1):89-97. doi: 10.1203/00006450-199307000-00021.
2
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.一种影响心肌、骨骼肌和中性粒细胞的X连锁线粒体疾病。
J Neurol Sci. 1983 Dec;62(1-3):327-55. doi: 10.1016/0022-510x(83)90209-5.
3
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.
多系统甘油三酯贮积病是由于细胞内合成的甘油三酯降解存在特定缺陷所致。
Neurology. 1988 Jul;38(7):1107-10. doi: 10.1212/wnl.38.7.1107.
4
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.
5
Transport of carnitine into cells in hereditary carnitine deficiency.
J Inherit Metab Dis. 1989;12(2):108-11. doi: 10.1007/BF01800711.
6
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.
7
Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation.
Neurology. 1991 Oct;41(10):1691-3. doi: 10.1212/wnl.41.10.1691.
8
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.
9
Significance of bound glutarate in the diagnosis of glutaric aciduria type I.
J Inherit Metab Dis. 1992;15(3):367-70. doi: 10.1007/BF02435978.