Mutant carnitine palmitoyltransferase associated with myoadenylate deaminase deficiency in skeletal muscle.

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作者信息

Reuschenbach C, Zierz S

机构信息

Neurologische Universitätsklinik, Bonn, West Germany.

出版信息

J Pediatr. 1988 Apr;112(4):600-3. doi: 10.1016/s0022-3476(88)80180-x.

DOI:10.1016/s0022-3476(88)80180-x

PMID:3351687

Abstract

摘要

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Mutant carnitine palmitoyltransferase associated with myoadenylate deaminase deficiency in skeletal muscle.

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Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.肉碱棕榈酰转移酶 II（CPT II）缺乏症：概念性方法。

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Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.肌肉肉碱棕榈酰转移酶II缺乏症：酶学争议与临床特征综述

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Myoadenylate deaminase deficiency with severe rhabdomyolysis.伴有严重横纹肌溶解症的肌腺苷酸脱氨酶缺乏症

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Clin Investig. 1993 Oct;71(10):763-9. doi: 10.1007/BF00190315.

Biochemical evidence for heterozygosity in muscular carnitine palmitoyltransferase deficiency.肌肉肉碱棕榈酰转移酶缺乏症杂合性的生化证据。

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Inhibition of carnitine palmitoyltransferase (CPT) by chlorpromazine in muscle of patients with CPT deficiency.氯丙嗪对肉碱棕榈酰转移酶（CPT）缺乏症患者肌肉中肉碱棕榈酰转移酶（CPT）的抑制作用。

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