Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.
作者信息
Hommes F A, De Groot C J, Wilmink C W, Jonxis J H
出版信息
Arch Dis Child. 1969 Dec;44(238):688-93. doi: 10.1136/adc.44.238.688.
Abstract
摘要
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Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.一名患有严重脑损伤婴儿的氨甲酰磷酸合成酶缺乏症
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Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.人类线粒体氨甲酰磷酸合成酶缺乏症的常染色体隐性遗传。
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Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.
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本文引用的文献
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EFFECTS OF DIET AND INSULIN ON GLUCOSE-ADENOSINE TRIPHOSPHATE PHOSPHOTRANSFERASES OF RAT LIVER.饮食与胰岛素对大鼠肝脏葡萄糖 - 三磷酸腺苷磷酸转移酶的影响。
J Biol Chem. 1963 Dec;238:3840-5.
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Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.高氨血症。尿素生物合成先天性酶缺陷的一个新病例。
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A fluorimetric method for the quantitative microanalysis of adenine and pyridine nucleotides.一种用于腺嘌呤和吡啶核苷酸定量微量分析的荧光法。
Anal Biochem. 1962 May;3:369-82. doi: 10.1016/0003-2697(62)90065-9.
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Metabolism of the white blood cells in maple-syrup-urine disease.枫糖尿症中白细胞的代谢
Biochim Biophys Acta. 1960 Sep 23;43:342-3. doi: 10.1016/0006-3002(60)90448-0.
5
Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.尿素合成的比较生物化学。I. 肝脏中尿素循环酶的定量测定方法。
J Biol Chem. 1959 Jul;234(7):1769-74.
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Formation of urea from arginine in the brain of the living rat.
Nature. 1959 May 30;183(4674):1520-1. doi: 10.1038/1831520a0.
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A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.一种可能为遗传性的疾病，其特征为严重智力缺陷和氨基酸代谢持续明显异常。
Lancet. 1958 Jan 25;1(7013):182-7. doi: 10.1016/s0140-6736(58)90666-4.
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The free amino acids of human blood plasma.人血浆中的游离氨基酸。
J Biol Chem. 1954 Dec;211(2):915-26.
9
A modified ninhydrin reagent for the photometric determination of amino acids and related compounds.一种用于光度法测定氨基酸及相关化合物的改良茚三酮试剂。
J Biol Chem. 1954 Dec;211(2):907-13.
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Treatment of hyperammonemia.
Am J Dis Child. 1967 Jan;113(1):142-5. doi: 10.1001/archpedi.1967.02090160192031.
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