同型胱氨酸尿症：一种与智力缺陷相关的新的先天性代谢紊乱。 - Suppr

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超能文献

HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.

作者信息

CARSON N A, CUSWORTH D C, DENT C E, FIELD C M, NEILL D W, WESTALL R G

出版信息

Arch Dis Child. 1963 Oct;38(201):425-36. doi: 10.1136/adc.38.201.425.

DOI:10.1136/adc.38.201.425

PMID:14065982

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019092/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/93622b45f753/archdisch01590-0004-a.jpg

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HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.同型胱氨酸尿症：一种与智力缺陷相关的新的先天性代谢紊乱。

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本文引用的文献

Displacement chromatography on synthetic ion-exchange resins. 3. Fractionation of a protein hydrolysate.合成离子交换树脂上的置换色谱法。3. 蛋白质水解产物的分级分离。

Biochem J. 1949;44(5):521-7.

A study of the behaviour of some sixty amino-acids and other ninhydrin-reacting substances on phenol-;collidine' filter-paper chromatograms, with notes as to the occurrence of some of them in biological fluids.一项关于约六十种氨基酸及其他与茚三酮反应物质在苯酚 - 可力丁滤纸色谱上行为的研究，并记录了其中一些物质在生物体液中的存在情况。

Biochem J. 1948;43(2):169-80.

Isolation of amino acids by chromatography on ion exchange columns; use of volatile buffers.通过离子交换柱色谱法分离氨基酸；使用挥发性缓冲液。

J Biol Chem. 1952 Apr;195(2):669-96.

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.有机酸尿症、肾脏氨生成减少、眼球积水和智力迟钝；一种临床病症。

AMA Am J Dis Child. 1952 Feb;83(2):164-84. doi: 10.1001/archpedi.1952.02040060030004.

Aminoacid metabolism in cystinuria.胱氨酸尿症中的氨基酸代谢

Q J Med. 1951 Jul;20(79):205-19.

Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness.在一个患有遗传性肾病和耳聋的家族中出现的家族性高脯氨酸血症、脑功能障碍和肾脏异常。

N Engl J Med. 1962 Jul 12;267:51-60. doi: 10.1056/NEJM196207122670201.

Cystathioniuria.胱硫醚尿症

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The serum leucine aminopeptidase test: an appraisal of its value in diagnosis of carcinoma of pancreas.血清亮氨酸氨基肽酶检测：对其在胰腺癌诊断中价值的评估。

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The amino acids and other ampholytes of urine. 3. Unidentified substances excreted in normal human urine.尿液中的氨基酸及其他两性电解质。3. 正常人尿液中排泄的未知物质。

Biochem J. 1955 Jun;60(2):247-55. doi: 10.1042/bj0600247.

Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland.在北爱尔兰对智力落后个体的一项调查中检测到的代谢异常。

Arch Dis Child. 1962 Oct;37(195):505-13. doi: 10.1136/adc.37.195.505.

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