A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism.

Suppr

超能文献

作者信息

Divry P, Baltassat P, Rolland M O, Cotte J, Hermier M, Duran M, Wadman S K

出版信息

Clin Chim Acta. 1983 Apr 25;129(3):303-9. doi: 10.1016/0009-8981(83)90033-5.

DOI:10.1016/0009-8981(83)90033-5

PMID:6133657

Abstract

摘要

相似文献

A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism.

Clin Chim Acta. 1983 Apr 25;129(3):303-9. doi: 10.1016/0009-8981(83)90033-5.

4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.

J Inherit Metab Dis. 1984;7 Suppl 1:90-2.

4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.

J Inherit Metab Dis. 1984;7 Suppl 1:95-6. doi: 10.1007/BF03047383.

Succinic semialdehyde dehydrogenase deficiency.

J Neurogenet. 1984 Sep;1(3):213-8. doi: 10.3109/01677068409107087.

Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria.4-羟基丁酸尿症中琥珀酸半醛脱氢酶活性缺陷

Eur J Pediatr. 1984 Sep;142(4):257-9. doi: 10.1007/BF00540247.

4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.

J Inherit Metab Dis. 1984;7 Suppl 1:92-4.

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism.一名患有神经异常患者的γ-羟基丁酸尿排泄情况。一种新的先天性代谢缺陷的可能性。

Clin Chim Acta. 1981 Apr 9;111(2-3):169-78. doi: 10.1016/0009-8981(81)90184-4.

Inborn errors of GABA metabolism.γ-氨基丁酸代谢的先天性缺陷。

Bioessays. 1986 Jan;4(1):24-7. doi: 10.1002/bies.950040107.

[4-Hydroxybutyric aciduria].[4-羟基丁酸尿症]

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):250-1.

Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria.[U-14C]琥珀酸半醛在培养的人淋巴母细胞中的氧化：11例4-羟基丁酸尿症患者残余琥珀酸半醛脱氢酶活性的测定

Pediatr Res. 1988 Oct;24(4):455-60. doi: 10.1203/00006450-198810000-00007.

引用本文的文献

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.琥珀酸半醛脱氢酶缺乏症（一种典型的代谢性神经发育障碍）5年自然史研究的临床和分子结果

J Neurodev Disord. 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9.

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.琥珀酸半醛脱氢酶缺乏症的诊断和管理共识指南。

Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4.

Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics.用于临床诊断的多重液相色谱-串联质谱酮体检测方法的开发与验证

J Mass Spectrom Adv Clin Lab. 2024 Jan 23;31:49-58. doi: 10.1016/j.jmsacl.2024.01.004. eCollection 2024 Jan.

Succinic Semialdehyde Dehydrogenase Deficiency: An Update.琥珀酸半醛脱氢酶缺乏症：更新。

Cells. 2020 Feb 19;9(2):477. doi: 10.3390/cells9020477.

Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.琥珀酸半醛脱氢酶（SSADH）缺乏症的发病率及地理分布

JIMD Rep. 2017;34:111-115. doi: 10.1007/8904_2016_14. Epub 2016 Nov 5.

Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).五名代谢谱提示琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）患者的异常酶学发现。

J Inherit Metab Dis. 1998 Jun;21(3):255-61. doi: 10.1023/a:1005368106563.

Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria.4-羟基丁酸尿症中琥珀酸半醛脱氢酶活性缺陷

Eur J Pediatr. 1984 Sep;142(4):257-9. doi: 10.1007/BF00540247.

4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.

J Inherit Metab Dis. 1984;7 Suppl 1:95-6. doi: 10.1007/BF03047383.

Symptoms and signs in organic acidurias.有机酸尿症的症状和体征。

J Inherit Metab Dis. 1984;7 Suppl 1:23-7. doi: 10.1007/BF03047369.

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.

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