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

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

1
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.
2
4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.
J Inherit Metab Dis. 1984;7 Suppl 1:90-2.
3
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.
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4
Succinic semialdehyde dehydrogenase deficiency.
J Neurogenet. 1984 Sep;1(3):213-8. doi: 10.3109/01677068409107087.
5
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.
6
4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.
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7
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.
8
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.
9
[4-Hydroxybutyric aciduria].[4-羟基丁酸尿症]
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):250-1.
10
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.

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6
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.
7
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.
8
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.
9
Symptoms and signs in organic acidurias.有机酸尿症的症状和体征。
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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.