Maple syrup urine disease.
作者信息
PATRICK A D
出版信息
Arch Dis Child. 1961 Jun;36(187):269-72. doi: 10.1136/adc.36.187.269.
Abstract
摘要
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Maple syrup urine disease.枫糖尿症
Arch Dis Child. 1961 Jun;36(187):269-72. doi: 10.1136/adc.36.187.269.
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Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.枫糖尿症；一种与严重智力缺陷相关的缬氨酸、亮氨酸和异亮氨酸代谢先天性缺陷。
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A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.枫糖尿症（支链酮酸尿症）的一种新变异型。临床与生化评估。
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引用本文的文献
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[MAPLE SYRUP DISEASE WITH FAMILIAL INCIDENCE].[家族性发病率的枫糖尿症]
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2
Studies in maple syrup urine disease.枫糖尿症的研究。
Arch Dis Child. 1961 Jun;36(187):259-68. doi: 10.1136/adc.36.187.259.
3
Synthesis of essential amino acids from their alpha-keto analogues by perfused rat liver and muscle.灌注大鼠肝脏和肌肉从其α-酮类似物合成必需氨基酸。
J Clin Invest. 1973 Nov;52(11):2865-77. doi: 10.1172/JCI107483.
4
Inhibition by the branched-chain 2-oxo acids of the 2-oxoglutarate dehydrogenase complex in developing rat and human brain.支链2-氧代酸对发育中大鼠和人脑中2-氧代戊二酸脱氢酶复合体的抑制作用。
Biochem J. 1974 Oct;144(1):91-7. doi: 10.1042/bj1440091.
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Differential effects of 2-oxo acids on pyruvate utilization and fatty acid synthesis in rat brain.2-氧代酸对大鼠脑内丙酮酸利用及脂肪酸合成的不同影响
Biochem J. 1974 Apr;140(1):25-9. doi: 10.1042/bj1400025.
本文引用的文献
1
Studies in maple syrup urine disease.枫糖尿症的研究。
Arch Dis Child. 1961 Jun;36(187):259-68. doi: 10.1136/adc.36.187.259.
2
Maple syrup urine disease.
J Pathol Bacteriol. 1961 Apr;81:379-84. doi: 10.1002/path.1700810209.
3
Maple syrup disease; isolation and identification of organic acids in the urine.枫糖尿症；尿液中有机酸的分离与鉴定
Pediatrics. 1959 Feb;23(2):348-53.
4
Maple syrup urine disease.枫糖尿症
Br Med J. 1959 Jan 10;1(5114):91-3. doi: 10.1136/bmj.1.5114.91.
5
Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.枫糖尿症；一种与严重智力缺陷相关的缬氨酸、亮氨酸和异亮氨酸代谢先天性缺陷。
Br Med J. 1959 Jan 10;1(5114):90-1. doi: 10.1136/bmj.1.5114.90.
6
An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid.
Arch Dis Child. 1958 Apr;33(168):109-13. doi: 10.1136/adc.33.168.109.
7
8
Separation and estimation of blood keto acids by paper chromatography.通过纸色谱法分离和测定血液中的酮酸
Biochem J. 1953 Feb;53(3):340-7. doi: 10.1042/bj0530340.
9
The net enzymatic synthesis of acetyl coenzyme A.
J Biol Chem. 1952 May;196(2):535-46.
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