3-羟基-3-甲基戊二酸、3-甲基戊烯二酸和3-甲基戊二酸可能是非特异性的代谢疾病指标。 - Suppr

Suppr

超能文献

3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.

作者信息

Hammond J, Wilcken B

出版信息

J Inherit Metab Dis. 1984;7 Suppl 2:117-8. doi: 10.1007/978-94-009-5612-4_33.

DOI:10.1007/978-94-009-5612-4_33

PMID:6207381

Abstract

摘要

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3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.3-羟基-3-甲基戊二酸、3-甲基戊烯二酸和3-甲基戊二酸可能是非特异性的代谢疾病指标。

J Inherit Metab Dis. 1984;7 Suppl 2:117-8. doi: 10.1007/978-94-009-5612-4_33.

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Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins.气相色谱/质谱法检测双重一级表亲中的3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症。

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Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.通过气相色谱 - 质谱联用（GC-MS）以及对培养的羊水细胞和绒毛膜绒毛进行酶学分析对3-羟基-3-甲基戊二酸尿症进行产前诊断。

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3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.一名疑似3-甲基戊二酰辅酶A水合酶缺乏症患者的3-甲基戊烯二酸和3-甲基戊二酸尿症

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3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.

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Nutrients. 2023 Jan 19;15(3):531. doi: 10.3390/nu15030531.

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.3-甲基戊二酸尿症：一种3-甲基戊二酰辅酶A水合酶活性正常的表型。

Eur J Pediatr. 1988 Oct;148(1):76-82. doi: 10.1007/BF00441821.

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症：综述

J Inherit Metab Dis. 1986;9(3):225-33. doi: 10.1007/BF01799652.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症：18例报告患者的综述

Eur J Pediatr. 1988 Dec;148(3):180-6. doi: 10.1007/BF00441397.

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