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Cold induced rhabdomyolysis in carnitine palmyityl transferase deficiency.

作者信息

Brownell A K, Severson D L, Thompson C D, Fletcher T

出版信息

Can J Neurol Sci. 1979 Aug;6(3):367-70. doi: 10.1017/s0317167100024033.

DOI:10.1017/s0317167100024033
PMID:487329
Abstract

A case of carnitine palmityl transferase deficiency in skeletal muscle is described. The usual symptoms associated with this disease (recurrent muscle cramps or pain and pigmenturia) were observed but sudden exposure to cold precipitate rhabdomyolysis in this patient.

摘要

相似文献

1
Cold induced rhabdomyolysis in carnitine palmyityl transferase deficiency.
Can J Neurol Sci. 1979 Aug;6(3):367-70. doi: 10.1017/s0317167100024033.
2
Acute rhabdomyolysis with carnitine-palmityl-transferase deficiency.
Intensive Care Med. 1982;8(6):307. doi: 10.1007/BF01716746.
3
Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmityl transferase deficiency.一名患有家族性肉碱棕榈酰转移酶缺乏症的女孩在感染流感后发生致命性横纹肌溶解症。
Pediatrics. 1989 Aug;84(2):312-6.
4
[Primary cardiomyopathy in children with lipid infiltration of the myocardium and skeletal muscles and demonstration of a palmityl-carnitine transferase deficiency. Apropos of 4 cases].[心肌和骨骼肌脂质浸润伴肉碱棕榈酰转移酶缺乏的儿童原发性心肌病。附4例报告]
Arch Mal Coeur Vaiss. 1979 May;72(5):529-35.
5
[Myopathy due to carnitine palmitoyltransferase deficiency. Report of 2 cases with enzymatic analyses on muscle tissue].
Arq Neuropsiquiatr. 1983 Dec;41(4):377-84. doi: 10.1590/s0004-282x1983000400008.
6
Carnitine-palmityl-transferase deficiency.
J Neurol Sci. 1976 Dec;30(2-3):247-58. doi: 10.1016/0022-510x(76)90131-3.
7
Postanesthetic acute renal failure due to carnitine palmityl transferase deficiency.
Anesthesiology. 1988 Jun;68(6):945-8. doi: 10.1097/00000542-198806000-00021.
8
Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency.因肌肉肉碱棕榈酰转移酶缺乏导致的复发性肌红蛋白尿
Ann Intern Med. 1978 May;88(5):610-5. doi: 10.7326/0003-4819-88-5-610.
9
Partial muscle carnitine palmitoyltransferase-A deficiency. Rhabdomyolysis associated with transiently decreased muscle carnitine content after ibuprofen therapy.部分性肌肉肉碱棕榈酰转移酶-A缺乏症。布洛芬治疗后横纹肌溶解症与肌肉肉碱含量短暂降低相关。
JAMA. 1987 Jan 2;257(1):62-5. doi: 10.1001/jama.257.1.62.
10
[Acute renal insufficiency caused by rhabdomyolysis due to deficiency of carnitine palmitoyltransferase].
Minerva Nefrol. 1981 Oct-Dec;28(4):497-502.

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Biochemical evidence for heterozygosity in muscular carnitine palmitoyltransferase deficiency.
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Potential role of carnitine in patients with renal insufficiency.肉碱在肾功能不全患者中的潜在作用。
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Vascular and myofibrillar lesions in acute myoglobinuria associated with carnitine-palmityl-transferase deficiency.
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