3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine.

Suppr

超能文献

作者信息

Duran M, Schutgens R B, Ketel A, Heymans H, Bertssen M W, Ketting D, Wadman S K

出版信息

J Pediatr. 1979 Dec;95(6):1004-7. doi: 10.1016/s0022-3476(79)80297-8.

DOI:10.1016/s0022-3476(79)80297-8

PMID:91680

Abstract

摘要

相似文献

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine.

J Pediatr. 1979 Dec;95(6):1004-7. doi: 10.1016/s0022-3476(79)80297-8.

Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.一名3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患儿的临床及生化观察

J Inherit Metab Dis. 1980;3(3):89-90. doi: 10.1007/BF02312535.

3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.3-甲基-3-丁烯酸：3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患者尿液代谢模式中的一种假象。

Clin Chim Acta. 1980 Sep 8;106(1):85-9. doi: 10.1016/0009-8981(80)90377-0.

[3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency].

Klin Padiatr. 2000 May-Jun;212(3):113-6. doi: 10.1055/s-2000-10043.

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.

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.

Clin Chim Acta. 1990 Aug 31;189(3):327-34. doi: 10.1016/0009-8981(90)90314-i.

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。

Clin Chem. 1982 Jan;28(1):137-40.

Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase.

J Pediatr. 1979 Jan;94(1):89-91. doi: 10.1016/s0022-3476(79)80364-9.

3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes.

Clin Chim Acta. 1976 Dec 1;73(2):373-5. doi: 10.1016/0009-8981(76)90186-8.

GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患者尿液的气相色谱/质谱分析

Acta Paediatr Jpn. 1992 Apr;34(2):157-65. doi: 10.1111/j.1442-200x.1992.tb00943.x.

引用本文的文献

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.有毒代谢物与氨基酸代谢的先天性缺陷：二者之间的相互关系

Metabolites. 2022 Jun 8;12(6):527. doi: 10.3390/metabo12060527.

Molecular basis of 3-hydroxy-3-methylglutaric aciduria.3-羟基-3-甲基戊二酸尿症的分子基础

J Physiol Biochem. 2003 Dec;59(4):311-21. doi: 10.1007/BF03179889.

3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.一名患有巨头畸形和轻度代谢性酸中毒的婴儿出现3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症。

Eur J Pediatr. 1982 Feb;138(1):73-6. doi: 10.1007/BF00442334.

A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.一名患有急性胰腺炎且因3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症而反复出现低血糖的儿童。

Eur J Pediatr. 1984 Sep;142(4):289-91. doi: 10.1007/BF00540255.

Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.培养成纤维细胞中3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的基因互补分析

Am J Hum Genet. 1984 Jul;36(4):791-801.

Prenatal diagnosis of the organic acidurias.有机酸尿症的产前诊断。

J Inherit Metab Dis. 1984;7 Suppl 1:18-22. doi: 10.1007/BF03047368.

CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症一例的CT表现

Neuroradiology. 1981;22(2):99-101. doi: 10.1007/BF00344781.

Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.一名3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患儿的临床及生化观察

J Inherit Metab Dis. 1980;3(3):89-90. doi: 10.1007/BF02312535.

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.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验