Hyperlysinaemia. Harmless inborn error of metabolism?
作者信息
van Gelderen H H, Teijema H L
出版信息
Arch Dis Child. 1973 Nov;48(11):892-5. doi: 10.1136/adc.48.11.892.
Abstract
摘要
相似文献
1
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.
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Metabolic errors in lysine degradation.
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A case of hyperlysinemia: biochemical and clinical observations.一例高赖氨酸血症：生化及临床观察
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6
A new type of hyperlysinaemia due to a transport defect of lysine into mitochondria.一种因赖氨酸向线粒体转运缺陷导致的新型高赖氨酸血症。
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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。
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Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.δ1-吡咯啉-5-羧酸合成酶缺乏症：神经退行性变、白内障和结缔组织表现合并高氨血症以及鸟氨酸、瓜氨酸、精氨酸和脯氨酸减少。
Eur J Pediatr. 2005 Jan;164(1):31-6. doi: 10.1007/s00431-004-1545-3. Epub 2004 Oct 28.
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Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance.赖氨酸尿性蛋白不耐受症中血浆精氨酸和鸟氨酸的代谢清除缺陷。
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Letter: hyperlysinaemia.信函：高赖氨酸血症。
Arch Dis Child. 1974 Dec;49(12):971. doi: 10.1136/adc.49.12.971.
引用本文的文献
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A case of hyperlysinemia identified by urine newborn screening.一例通过新生儿尿液筛查确诊的高赖氨酸血症病例。
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2
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.
3
A new type of hyperlysinaemia due to a transport defect of lysine into mitochondria.一种因赖氨酸向线粒体转运缺陷导致的新型高赖氨酸血症。
J Inherit Metab Dis. 1986;9(3):313-6. doi: 10.1007/BF01799673.
4
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.
5
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.
本文引用的文献
1
HYPERLYSINEMIA.高赖氨酸血症
Am J Dis Child. 1964 Nov;108:543-53. doi: 10.1001/archpedi.1964.02090010545015.
2
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.
3
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.
4
5
Hyperlysinemia associated with retardation.与智力发育迟缓相关的高赖氨酸血症。
N Engl J Med. 1965 Sep 30;273(14):723-9. doi: 10.1056/NEJM196509302731401.
6
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.
7
Further investigations in the methionine malabsorption syndrome.蛋氨酸吸收不良综合征的进一步研究。
Helv Paediatr Acta. 1968 Aug;23(4):334-49.
8
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.
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