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Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.

作者信息

MACKENZIE D Y, WOOLF L I

出版信息

Br Med J. 1959 Jan 10;1(5114):90-1. doi: 10.1136/bmj.1.5114.90.

DOI:10.1136/bmj.1.5114.90
PMID:13608087
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1992202/
Abstract
摘要

相似文献

1
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.
2
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.
3
[Maple syrup urine disease].
Monatsschr Kinderheilkd (1902). 1962 Mar;110:165-6.
4
MAPLE SYRUP URINE DISEASE: A MANIFESTATION OF AN UNUSUAL METABOLIC ERROR.
Clin Pediatr (Phila). 1964 Jun;3:365-7. doi: 10.1177/000992286400300608.
5
Maple syrup urine disease.
Actual Pediatr (Granada). 1961 Jun;19:501-8.
6
Maple syrup urine disease.
J Pathol Bacteriol. 1961 Apr;81:379-84. doi: 10.1002/path.1700810209.
7
[Disorders of leucine, isoleucine and valine metabolism (maple syrup urine disease)].
Srp Arh Celok Lek. 1975 May;103(5):419-36.
8
[CLINICAL, BIOCHEMICAL, AND NEUROPATHOLOGIC ASPECTS OF MAPLE SYRUP URINE DISEASE. A KETOACIDURIA OF THE OPEN CHAIN AMINOACIDS LEUCINE, ISOLEUCINE AND VALINE].
An Fac Med Lima. 1963 Sep;46:339-65.
9
The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease.儿童对必需氨基酸的需求。基于苯丙酮尿症、酪氨酸氨基转移酶缺陷症和枫糖尿症患儿苯丙氨酸、酪氨酸、亮氨酸、异亮氨酸和缬氨酸摄入量的评估。
Am J Clin Nutr. 1980 Feb;33(2):279-86. doi: 10.1093/ajcn/33.2.279.
10
LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE).
Acta Paediatr (Stockh). 1964 Jul;53:356-64. doi: 10.1111/j.1651-2227.1964.tb07789.x.

引用本文的文献

1
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.枫糖尿症患者炎症血浆生物标志物的评估
J Inherit Metab Dis. 2018 May 8. doi: 10.1007/s10545-018-0188-x.
2
ADS lyase is an enzyme essential for virulence whose crystal structure reveals features exploitable in antifungal drug design.腺苷脱氨酶裂解酶是一种毒力必需的酶，其晶体结构揭示了抗真菌药物设计中可利用的特征。
J Biol Chem. 2017 Jul 14;292(28):11829-11839. doi: 10.1074/jbc.M117.787994. Epub 2017 May 30.
3
Serum Markers of Neurodegeneration in Maple Syrup Urine Disease.枫糖尿症患者的神经退行性病变血清标志物。
Mol Neurobiol. 2017 Sep;54(7):5709-5719. doi: 10.1007/s12035-016-0116-8. Epub 2016 Sep 22.
4
Potent anti-seizure effects of D-leucine.D-亮氨酸具有强大的抗癫痫作用。
Neurobiol Dis. 2015 Oct;82:46-53. doi: 10.1016/j.nbd.2015.05.013. Epub 2015 Jun 6.
5
Acute and chronic administration of the branched-chain amino acids decreases nerve growth factor in rat hippocampus.急性和慢性给予支链氨基酸可降低大鼠海马神经生长因子。
Mol Neurobiol. 2013 Dec;48(3):581-9. doi: 10.1007/s12035-013-8447-1. Epub 2013 Apr 5.
6
Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat model.慢性支链氨基酸给药会损害空间记忆，并增加大鼠模型中的脑源性神经营养因子。
J Inherit Metab Dis. 2013 Sep;36(5):721-30. doi: 10.1007/s10545-012-9549-z. Epub 2012 Oct 30.
7
Evaluation of acetylcholinesterase in an animal model of maple syrup urine disease.评价枫糖尿症动物模型中的乙酰胆碱酯酶。
Mol Neurobiol. 2012 Apr;45(2):279-86. doi: 10.1007/s12035-012-8243-3. Epub 2012 Feb 12.
8
New developments in the treatment of hyperammonemia: emerging use of carglumic acid.新型高氨血症治疗方法：氨甲酰谷氨酸的新应用。
Int J Gen Med. 2011 Jan 7;4:21-8. doi: 10.2147/IJGM.S10490.
9
Virulence of Mycobacterium tuberculosis depends on lipoamide dehydrogenase, a member of three multienzyme complexes.结核分枝杆菌的毒力取决于脂酰脱氢酶，它是三个多酶复合物的成员之一。
Cell Host Microbe. 2011 Jan 20;9(1):21-31. doi: 10.1016/j.chom.2010.12.004.
10
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease.枫糖尿症脑损伤的双重机制及新治疗策略
Brain. 2009 Apr;132(Pt 4):903-18. doi: 10.1093/brain/awp024. Epub 2009 Mar 17.

本文引用的文献

1
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.
2
The dietary treatment of phenylketonuria.苯丙酮尿症的饮食治疗
Arch Dis Child. 1958 Feb;33(167):31-45. doi: 10.1136/adc.33.167.31.
3
Familial hypoglycemia precipitated by amino acids.由氨基酸引发的家族性低血糖症。
J Clin Invest. 1956 Apr;35(4):411-22. doi: 10.1172/JCI103292.
4
Paper chromatography of urinary indoles.尿中吲哚的纸色谱分析
Lancet. 1955 Nov 12;269(6898):1009-11. doi: 10.1016/s0140-6736(55)93432-2.
5
A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.一种新综合征：与一种异常尿物质相关的进行性家族性婴儿脑功能障碍。
Pediatrics. 1954 Nov;14(5):462-7.