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Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

作者信息

Gibson K M, Cassidy S B, Seaver L H, Wanders R J, Kennaway N G, Mitchell G A, Spark R P

机构信息

Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, TX.

出版信息

J Inherit Metab Dis. 1994;17(3):291-4. doi: 10.1007/BF00711810.

DOI:10.1007/BF00711810
PMID:7807935
Abstract
摘要

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Biochemical diagnosis of genetic diseases.遗传疾病的生化诊断
Pediatr Ann. 1993 May;22(5):282-92, 295-7. doi: 10.3928/0090-4481-19930501-08.
2
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症：五例新患者报告。
J Inherit Metab Dis. 1988;11(1):76-87. doi: 10.1007/BF01800058.
3
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.
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.
4
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.3-羟-3-甲基戊二酰辅酶 A 裂解酶缺乏症：一种疾病，多种表现。
Orphanet J Rare Dis. 2020 Feb 14;15(1):48. doi: 10.1186/s13023-020-1319-7.
5
Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release.HMG-CoA裂解酶缺乏症中积累的主要代谢产物诱导皮质星形胶质细胞产生促炎反应：ERK信号通路在细胞因子释放中的作用
Mol Neurobiol. 2016 Aug;53(6):3586-3595. doi: 10.1007/s12035-015-9289-9. Epub 2015 Jun 23.
6
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症：巨头畸形与左心室心肌致密化不全及一种新突变
Indian J Pediatr. 2015 Jul;82(7):645-8. doi: 10.1007/s12098-015-1722-6. Epub 2015 Feb 25.
7
Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.3-羟基-3-甲基戊二酸尿症患者氧化应激增加。
Mol Cell Biochem. 2015 Apr;402(1-2):149-55. doi: 10.1007/s11010-014-2322-x. Epub 2015 Jan 4.
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Inborn errors of ketogenesis and ketone body utilization.先天性酮体生成和酮体利用障碍。
J Inherit Metab Dis. 2012 Jan;35(1):23-8. doi: 10.1007/s10545-011-9324-6. Epub 2011 Apr 9.
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Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.人组织中差异的 HMG-CoA 裂解酶表达为 3-羟基-3-甲基戊二酸尿症提供线索。
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Case Rep Med. 2009;2009:183125. doi: 10.1155/2009/183125. Epub 2009 Nov 4.
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