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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/e403/2019092/5beba4a13caf/archdisch01590-0007-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/93622b45f753/archdisch01590-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/25388190d97a/archdisch01590-0004-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/d0fd4e3a3d17/archdisch01590-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/336372dd0a65/archdisch01590-0006-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/5beba4a13caf/archdisch01590-0007-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/93622b45f753/archdisch01590-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/25388190d97a/archdisch01590-0004-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/d0fd4e3a3d17/archdisch01590-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/336372dd0a65/archdisch01590-0006-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e403/2019092/5beba4a13caf/archdisch01590-0007-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。
Arch Dis Child. 1963 Oct;38(201):425-36. doi: 10.1136/adc.38.201.425.
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[CITRULLINURIA].
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Dis Model Mech. 2023 Nov 1;16(11). doi: 10.1242/dmm.050233. Epub 2023 Nov 23.
2
Homocysteine-a retrospective and prospective appraisal.同型半胱氨酸——一项回顾性与前瞻性评估
Front Nutr. 2023 Jun 13;10:1179807. doi: 10.3389/fnut.2023.1179807. eCollection 2023.
3
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.治疗胱硫醚β合酶缺乏型高胱氨酸尿症的新策略。

本文引用的文献

1
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.
2
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.
3
Isolation of amino acids by chromatography on ion exchange columns; use of volatile buffers.
Br J Pharmacol. 2023 Feb;180(3):264-278. doi: 10.1111/bph.15991. Epub 2022 Dec 8.
4
Early Development of Newborn Screening for HCU and Current Challenges.先天性高胱氨酸尿症新生儿筛查的早期发展及当前挑战。
Int J Neonatal Screen. 2021 Oct 25;7(4):67. doi: 10.3390/ijns7040067.
5
Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.两名新生儿筛查正常但出现急性脑静脉血栓形成和神经功能障碍的男孩中经典型同型胱氨酸尿症的诊断
Int J Neonatal Screen. 2021 Jul 23;7(3):48. doi: 10.3390/ijns7030048.
6
Combined glyoxalase 1 dysfunction and vitamin B6 deficiency in a schizophrenia model system causes mitochondrial dysfunction in the prefrontal cortex.联合糖氧还蛋白 1 功能障碍和维生素 B6 缺乏在精神分裂症模型系统中导致前额叶皮层线粒体功能障碍。
Redox Biol. 2021 Sep;45:102057. doi: 10.1016/j.redox.2021.102057. Epub 2021 Jun 24.
7
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.胱硫醚 β-合酶缺乏症 E-HOD 登记处研究之一：吡哆醇反应性作为诊断时生化和临床表型的决定因素。
J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28.
8
Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.酶治疗与饮食管理在治疗鼠同型胱氨酸尿症中的相互作用。
Nutrients. 2020 Sep 22;12(9):2895. doi: 10.3390/nu12092895.
9
The effectiveness of correcting abnormal metabolic profiles.纠正异常代谢谱的效果。
J Inherit Metab Dis. 2020 Jan;43(1):2-13. doi: 10.1002/jimd.12139. Epub 2019 Jul 17.
10
Cystathionine β-synthase deficiency: Of mice and men.胱硫醚β-合酶缺乏症：小鼠与人类
Mol Genet Metab. 2017 Jul;121(3):199-205. doi: 10.1016/j.ymgme.2017.05.011. Epub 2017 May 19.
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.
4
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.
5
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.
6
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.
7
Cystathioniuria.胱硫醚尿症
Ann Hum Genet. 1959 Dec;23:442-53. doi: 10.1111/j.1469-1809.1959.tb01485.x.
8
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。
Br Med J. 1960 Jun 11;1(5188):1787-90. doi: 10.1136/bmj.1.5188.1787.
9
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.
10
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.