Isovaleric acidemia: a new genetic defect of leucine metabolism.
作者信息
Tanaka K, Budd M A, Efron M L, Isselbacher K J
出版信息
Proc Natl Acad Sci U S A. 1966 Jul;56(1):236-42. doi: 10.1073/pnas.56.1.236.
Abstract
摘要
相似文献
1
Isovaleric acidemia: a new genetic defect of leucine metabolism.异戊酸血症：一种新的亮氨酸代谢遗传缺陷。
Proc Natl Acad Sci U S A. 1966 Jul;56(1):236-42. doi: 10.1073/pnas.56.1.236.
2
A rapid method for the quantitative analysis of short-chain fatty acids in serum or plasma.
Clin Chim Acta. 1971 Oct;34(3):463-6. doi: 10.1016/0009-8981(71)90102-1.
3
Hypoglycin A: a specific inhibitor of isovaleryl CoA dehydrogenase.降血糖素A：异戊酰辅酶A脱氢酶的特异性抑制剂。
Proc Natl Acad Sci U S A. 1971 Jan;68(1):20-4. doi: 10.1073/pnas.68.1.20.
4
Isovaleric acidemia: identification of isovalerate, isovalerylglycine, and 3-hydroxyisovalerate in urine of a patient previously reported as having butyric and hexanoic acidemia.异戊酸血症：在一名先前报告患有丁酸血症和己酸血症的患者尿液中鉴定出异戊酸、异戊酰甘氨酸和3-羟基异戊酸。
J Pediatr. 1973 Feb;82(2):243-8. doi: 10.1016/s0022-3476(73)80161-1.
5
Isovaleric acidemia.异戊酸血症
Can Med Assoc J. 1967 Nov 11;97(20):1230-1.
6
[Isovaleric acidemia].
Pediatrie. 1968 Apr-May;23(3):366-8.
7
Glycine therapy in isovaleric acidemia.
J Pediatr. 1978 May;92(5):813-7. doi: 10.1016/s0022-3476(78)80164-4.
8
The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric acidemia.从异戊酸血症患者尿液中分离和鉴定N-异戊酰甘氨酸。
J Biol Chem. 1967 Jun 25;242(12):2966-72.
9
The identification and the excretion pattern of isovaleryl glucuronide in the urine of patients with isovaleric acidemia.异戊酸血症患者尿液中异戊酰葡萄糖醛酸的鉴定及排泄模式
Pediatr Res. 1984 Jun;18(6):508-12. doi: 10.1203/00006450-198406000-00004.
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[Isovaleric acidemia: identical biochemical picture in 3 patients with variable clinical manifestations].[异戊酸血症：3例临床表现各异患者的相同生化特征]
Tijdschr Kindergeneeskd. 1982 Oct;50(5):153-9.
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The glycine -acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an and validation.甘氨酸酰基转移酶GLYAT和GLYATL1有助于异戊酰辅酶A的解毒作用—— 和验证。 （注：原文“an and validation”表述似乎不完整或有误，翻译可能存在一定局限性）
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Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany.新生儿异戊酸血症筛查：降低德国日益升高的假阳性率
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Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review.异戊酸血症的基因型-表型相关性分析：1例中国患者的长期随访病例报告及文献复习
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Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.采用基因和生化方法对羊水进行异戊酸血症的产前诊断。
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An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.一例异戊酸血症合并精神分裂症患者的口腔外科治疗特殊病例：病例报告
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本文引用的文献
1
Metabolism of beta-methyl-C5 fatty acids by mitochondria of rat liver: effect of biotin nutriture.大鼠肝脏线粒体对β-甲基-C5脂肪酸的代谢：生物素营养状况的影响。
Proc Soc Exp Biol Med. 1955 Feb;88(2):227-30. doi: 10.3181/00379727-88-21546.
2
INDUCTION OF SWELLING OF LIVER MITOCHONDRIA BY FATTY ACIDS OF VARIOUS CHAIN LENGTH.不同链长脂肪酸对肝脏线粒体肿胀的诱导作用
Biochim Biophys Acta. 1963 Oct 22;70:596-8. doi: 10.1016/0006-3002(63)90799-6.
3
Studies on fatty acid oxidation. 8. The effects of fatty acids on metabolism of rat-brain cortex in vitro.脂肪酸氧化的研究。8. 脂肪酸对大鼠大脑皮层体外代谢的影响。
Biochem J. 1961 Oct;81(1):45-53. doi: 10.1042/bj0810045.
4
Two-way separation of amino acids and other ninhydrin-reacting substances by high-voltage electrophoresis followed by paper chromatography.通过高压电泳继之以纸色谱法对氨基酸及其他与茚三酮反应的物质进行双向分离。
Biochem J. 1959 Aug;72(4):691-4. doi: 10.1042/bj0720691.
5
Carboxylation of beta-methylcrotonyl coenzyme A by a purified enzyme from chicken liver.
Biochim Biophys Acta. 1959 Jan;31(1):290-2. doi: 10.1016/0006-3002(59)90483-4.
6
Stimulation of the glucose oxidative pathway in human erythrocytes by methylene blue.亚甲蓝对人红细胞葡萄糖氧化途径的刺激作用。
J Biol Chem. 1958 Jan;230(1):307-17.
7
A study on the narcotic action of the short chain fatty acids.短链脂肪酸的麻醉作用研究。
J Clin Invest. 1956 Nov;35(11):1291-8. doi: 10.1172/JCI103384.
8
Effects of fatty acid anions on the electroencephalogram of unanesthetized rabbits.
Am J Physiol. 1956 Aug;186(2):271-4. doi: 10.1152/ajplegacy.1956.186.2.271.
9
Enzymatic carboxylation of beta-hydroxyisovaleryl coenzyme A.β-羟基异戊酰辅酶A的酶促羧化作用。
J Biol Chem. 1956 Apr;219(2):539-50.
10
Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes.关于纤维蛋白原、右旋糖酐和植物血凝素分离白细胞方法的研究。
Blood. 1956 May;11(5):436-54.
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