Neonatal death associated with isovalericacidaemia.
作者信息
Newman C G, Wilson B D, Callaghan P, Young L
出版信息
Lancet. 1967 Aug 26;2(7513):439-42. doi: 10.1016/s0140-6736(67)90854-9.
PMID:4166104
Abstract
摘要
相似文献
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Neonatal death associated with isovalericacidaemia.与异戊酸血症相关的新生儿死亡。
Lancet. 1967 Aug 26;2(7513):439-42. doi: 10.1016/s0140-6736(67)90854-9.
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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。
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Inborn errors of organic acid metabolism.有机酸代谢先天性缺陷
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Biosynthesis of triacylglycerols containing isovaleric acid.
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5
Possibility of inborn defect in isovalericacidaemia involving altered enzyme specificity rather than total inactivity.异戊酸血症中先天性缺陷可能涉及酶特异性改变而非完全无活性。
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Leucine catabolism and CO2 fixation into fatty acids by Tetrahymena: evidence for two pools of CO2.
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Biotin-responsive beta-methylcrotonylglycinuria.生物素反应性β-甲基巴豆酰甘氨酸尿症
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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.
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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。
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Acute neonatal isovaleric acidemia. A report of two cases.急性新生儿异戊酸血症。两例报告。
Isr J Med Sci. 1975 Oct;11(10):1005-10.
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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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Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.利用培养的皮肤成纤维细胞对异戊酸血症和II型戊二酸尿症进行互补研究。
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Isovaleric acidemia.异戊酸血症
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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.
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The response to L-carnitine and glycine therapy in isovaleric acidaemia.异戊酸血症对左旋肉碱和甘氨酸治疗的反应。
Eur J Pediatr. 1986 Feb;144(5):451-6. doi: 10.1007/BF00441737.
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Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.异戊酸血症患者培养皮肤成纤维细胞中[1-(14)C]和[2-(14)C]亮氨酸的代谢。代谢缺陷的特征。
J Clin Invest. 1976 Jul;58(1):164-72. doi: 10.1172/JCI108446.
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3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.3-甲基戊二酸尿症：一例伴有婴儿进行性脑病的同胞关系报告。
Eur J Pediatr. 1978 Dec 1;129(4):231-8. doi: 10.1007/BF00441354.
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