Neonatal death associated with isovalericacidaemia.

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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.

DOI:10.1016/s0140-6736(67)90854-9

PMID:4166104

Abstract

摘要

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Neonatal death associated with isovalericacidaemia.

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Isovaleric acidemia.异戊酸血症

Can Med Assoc J. 1967 Nov 11;97(20):1230-1.

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Proc Natl Acad Sci U S A. 1971 Jan;68(1):20-4. doi: 10.1073/pnas.68.1.20.

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。

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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。

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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。

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