与β-酮硫解酶缺乏相关的充血性心肌病。 - Suppr

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超能文献

Congestive cardiomyopathy associated with beta-ketothiolase deficiency.

作者信息

Henry C G, Strauss A W, Keating J P, Hillman R E

出版信息

J Pediatr. 1981 Nov;99(5):754-7. doi: 10.1016/s0022-3476(81)80404-0.

DOI:10.1016/s0022-3476(81)80404-0

PMID:7299555

Abstract

摘要

相似文献

Congestive cardiomyopathy associated with beta-ketothiolase deficiency.与β-酮硫解酶缺乏相关的充血性心肌病。

J Pediatr. 1981 Nov;99(5):754-7. doi: 10.1016/s0022-3476(81)80404-0.

Two cases of beta-ketothiolase deficiency: a comparison.两例β-酮硫解酶缺乏症的比较

J Inherit Metab Dis. 1984;7 Suppl 2:131-2.

[beta-Ketothiolase deficiency].

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):589-91.

beta-Ketothiolase deficiency with favourable evolution.

J Inherit Metab Dis. 1987;10(4):405-6. doi: 10.1007/BF01799988.

The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.在β-酮硫解酶缺乏症、丙酸血症和甲基丙二酸血症患者尿液中鉴定出一种新的异亮氨酸代谢产物——（E）-2-甲基戊二酸。

Biomed Mass Spectrom. 1982 Jan;9(1):1-5. doi: 10.1002/bms.1200090102.

3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.3-酮硫解酶缺乏症：4例患者成纤维细胞中线粒体乙酰乙酰辅酶A硫解酶生物合成缺陷的异质性。

J Inherit Metab Dis. 1989;12(3):368-72. doi: 10.1007/BF01799244.

3-Ketothiolase deficiency.3-酮硫解酶缺乏症

Eur J Pediatr. 1986 Apr;144(6):586-9. doi: 10.1007/BF00496042.

A case of beta-ketothiolase deficiency.一例β-酮硫解酶缺乏症。

J Inherit Metab Dis. 1983;6(4):157. doi: 10.1007/BF02310871.

Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency.

J Inherit Metab Dis. 1988;11(3):345-7. doi: 10.1007/BF01800390.

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.通过成纤维细胞体外酶学检测确诊的一个家族中的β-酮硫解酶缺乏症

Eur J Pediatr. 1982 Sep;139(1):39-42. doi: 10.1007/BF00442077.

引用本文的文献

Cardiac Complications of Propionic and Other Inherited Organic Acidemias.丙酸血症及其他遗传性有机酸血症的心脏并发症

Front Cardiovasc Med. 2020 Dec 22;7:617451. doi: 10.3389/fcvm.2020.617451. eCollection 2020.

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.2-甲基乙酰乙酰辅酶 A 硫解酶（β-酮硫解酶）缺乏症：一种疾病 - 两种途径。

Orphanet J Rare Dis. 2020 Apr 28;15(1):106. doi: 10.1186/s13023-020-01357-0.

Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.线粒体2-甲基乙酰乙酰辅酶A硫解酶缺乏症：异亮氨酸和酮体代谢的先天性缺陷。

J Inherit Metab Dis. 1993;16(1):46-54. doi: 10.1007/BF00711314.

Cardiomyopathy in propionic acidaemia.丙酸血症中的心肌病

Eur J Pediatr. 1993 May;152(5):441-5. doi: 10.1007/BF01955907.

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.通过成纤维细胞体外酶学检测确诊的一个家族中的β-酮硫解酶缺乏症

Eur J Pediatr. 1982 Sep;139(1):39-42. doi: 10.1007/BF00442077.

Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis.婴儿期原发性（遗传性）心肌病。可能疾病的调查及诊断指南。

Eur J Pediatr. 1986 Dec;145(6):454-9. doi: 10.1007/BF02429041.

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