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A case of hyperlysinemia: biochemical and clinical observations.

作者信息

Armstrong M D, Robinow M

出版信息

Pediatrics. 1967 Apr;39(4):546-54.

PMID:6022933
Abstract
摘要

相似文献

1
A case of hyperlysinemia: biochemical and clinical observations.一例高赖氨酸血症:生化及临床观察
Pediatrics. 1967 Apr;39(4):546-54.
2
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.高鸟氨酸血症、高氨血症和同型瓜氨酸尿症。一种与肌阵挛性癫痫和智力发育迟缓相关的新的氨基酸代谢紊乱疾病。
Am J Dis Child. 1969 Jan;117(1):83-92.
3
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Hippokrates. 1968 May 31;39(10):357-67.
4
Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines.一名智力发育迟缓的纯合子中的高双氨基酸尿症及对吩噻嗪类药物的特殊反应。
Pediatrics. 1973 Feb;51(2):223-9.
5
Paths of lysine degradation in patients with hyperlysinemia.高赖氨酸血症患者赖氨酸降解途径。
Pediatrics. 1967 Dec;40(6):986-92.
6
[A patient with persistent hyperlysinemia].[一名患有持续性高赖氨酸血症的患者]
Tijdschr Kindergeneeskd. 1983 Feb;51(1):24-6.
7
[Combined cystinuria-lysinuria in 2 brothers with mental retardation and morphologic and neurologic anomalies].两兄弟患联合性胱氨酸尿症 - 赖氨酸尿症,伴有智力发育迟缓及形态学和神经学异常
Acta Neurol Psychiatr Belg. 1968 Mar;68(3):216-27.
8
The implications of hyperammonemia in rare and common disorders, including migraine.高氨血症在包括偏头痛在内的罕见和常见疾病中的影响。
Mt Sinai J Med. 1973 Sep-Oct;40(5):609-30.
9
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities.与精氨琥珀酸合成酶和精氨酸酶活性降低相关的周期性高氨血症、高赖氨酸血症和高瓜氨酸尿症。
Pediatr Res. 1977 Sep;11(9 Pt 1):949-53. doi: 10.1203/00006450-197709000-00002.
10
Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy.
N Engl J Med. 1985 Jan 31;312(5):290-4. doi: 10.1056/NEJM198501313120506.

引用本文的文献

1
Neurochemical evidence that lysine inhibits synaptic Na+,K+-ATPase activity and provokes oxidative damage in striatum of young rats in vivo.神经化学证据表明,赖氨酸在体内抑制突触 Na+,K+-ATP 酶活性,并引发年轻大鼠纹状体的氧化损伤。
Neurochem Res. 2011 Feb;36(2):205-14. doi: 10.1007/s11064-010-0302-4. Epub 2010 Oct 27.
2
Inhibition of creatine kinase activity by lysine in rat cerebral cortex.赖氨酸对大鼠大脑皮层中肌酸激酶活性的抑制作用。
Metab Brain Dis. 2009 Jun;24(2):349-60. doi: 10.1007/s11011-009-9131-z. Epub 2009 Apr 16.
3
The prognosis of hyperlysinemia: an interim report.
高赖氨酸血症的预后:中期报告。
Am J Hum Genet. 1983 May;35(3):438-42.
4
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency.伴有赖氨酸-酮戊二酸还原酶功能不全的家族性高赖氨酸血症
J Clin Invest. 1969 Aug;48(8):1447-52. doi: 10.1172/JCI106110.
5
Saccharopinuria.尿鸟氨酸琥珀酸血症
Arch Dis Child. 1972 Feb;47(251):52-5. doi: 10.1136/adc.47.251.52.
6
Hyperlysinaemia. Harmless inborn error of metabolism?高赖氨酸血症。无害的先天性代谢错误?
Arch Dis Child. 1973 Nov;48(11):892-5. doi: 10.1136/adc.48.11.892.
7
Dietary treatment of hyperlysinaemia.高赖氨酸血症的饮食治疗。
Arch Dis Child. 1989 May;64(5):716-20. doi: 10.1136/adc.64.5.716.
8
Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance.一名无明显蛋白质不耐受的土耳其婴儿的高双氨基酸尿症
Eur J Pediatr. 1979 Apr 25;131(1):33-41. doi: 10.1007/BF00442783.
9
Familial hyperlysinaemia due to L-lysine alpha-ketoglutarate reductase deficiency: results of attempted treatment.由于L-赖氨酸α-酮戊二酸还原酶缺乏所致的家族性高赖氨酸血症:治疗尝试的结果
J Inherit Metab Dis. 1978;1(3):89-94. doi: 10.1007/BF01805679.
10
Abnormal amino acid metabolism and brain protein synthesis during neural development.神经发育过程中异常的氨基酸代谢和脑蛋白合成。
Neurochem Res. 1978 Aug;3(4):381-99. doi: 10.1007/BF00966321.