Lysinuric protein intolerance presenting as coma in a middle-aged man.
作者信息
Gare M, Shalit M, Gutman A
机构信息
Department of Internal Medicine, Michael Reese Hospital, Chicago, Illinois 60616, USA.
出版信息
West J Med. 1996 Oct;165(4):231-3.
Abstract
摘要
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Lysinuric protein intolerance presenting as coma in a middle-aged man.一名中年男性因赖氨酸尿性蛋白不耐受而昏迷。
West J Med. 1996 Oct;165(4):231-3.
2
Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance.
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[A case of lysinuric protein intolerance with intermittent stupor looking like psychomotor seizure in adulthood].[一例成年期赖氨酸尿性蛋白不耐受伴间歇性木僵，形似精神运动性发作]
Rinsho Shinkeigaku. 1986 Jun;26(6):592-600.
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[Lysinuric protein intolerance].[赖氨酸尿性蛋白不耐受症]
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5
Abnormal pulmonary macrophages in lysinuric protein intolerance. Ultrastructural, morphometric, and x-ray microanalytic study.
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[Unusual pulmonary presentation of lysinuric protein intolerance].[赖氨酸尿性蛋白不耐受的不寻常肺部表现]
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Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.
J Pediatr. 1999 Feb;134(2):236-9. doi: 10.1016/s0022-3476(99)70423-3.
8
Familial lysinuric protein intolerance presenting as coma in two adult siblings.两名成年兄弟姐妹中表现为昏迷的家族性赖氨酸尿蛋白不耐受症。
J Neurol Neurosurg Psychiatry. 1989 May;52(5):648-51. doi: 10.1136/jnnp.52.5.648.
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[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].[遗传学的迫切需求：迟发性急性氨基酸紊乱的临床诊断]
J Genet Hum. 1989 Dec;37(4-5):299-310.
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Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy.
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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.赖氨酸尿性蛋白不耐受患者中模仿系统性红斑狼疮的免疫失调：病例报告及文献综述
Front Pediatr. 2021 May 20;9:673957. doi: 10.3389/fped.2021.673957. eCollection 2021.
本文引用的文献
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Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset.赖氨酸尿性蛋白不耐受症起病时伴有慢性间质性肺病和肺胆固醇肉芽肿。
J Pediatr. 1993 Aug;123(2):275-8. doi: 10.1016/s0022-3476(05)81703-2.
2
Inherited and acquired syndromes of hyperammonemia and encephalopathy in children.
Semin Liver Dis. 1994 Aug;14(3):236-58. doi: 10.1055/s-2007-1007315.
3
Deficiency of endogenous arginine synthesis provokes hypertension by exhausting substrate arginine for nitric oxide synthesis.内源性精氨酸合成不足会耗尽一氧化氮合成所需的底物精氨酸，从而引发高血压。
Biochem Biophys Res Commun. 1994 Dec 15;205(2):1391-8. doi: 10.1006/bbrc.1994.2820.
4
Two cases suggesting a role for the L-arginine nitric oxide pathway in neonatal blood pressure regulation.
Acta Paediatr. 1995 Apr;84(4):460-2. doi: 10.1111/j.1651-2227.1995.tb13673.x.
5
Lysinuric protein intolerance. Basolateral transport defect in renal tubuli.赖氨酸尿性蛋白不耐受症。肾小管基底外侧转运缺陷。
J Clin Invest. 1981 Apr;67(4):1078-82. doi: 10.1172/jci110120.
6
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine.
J Pediatr. 1980 Dec;97(6):927-32. doi: 10.1016/s0022-3476(80)80422-7.
7
"Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance.赖氨酸尿性蛋白不耐受症中肝细胞的基底外侧和线粒体膜转运缺陷
Acta Paediatr Scand. 1983 Jan;72(1):65-70. doi: 10.1111/j.1651-2227.1983.tb09665.x.
8
Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance.在赖氨酸尿性蛋白不耐受症中口服ε-N-乙酰赖氨酸和高瓜氨酸。
J Pediatr. 1983 Mar;102(3):388-90. doi: 10.1016/s0022-3476(83)80654-4.
9
Basolateral-membrane transport defect for lysine in lysinuric protein intolerance.赖氨酸尿性蛋白不耐受症中赖氨酸的基底外侧膜转运缺陷。
Lancet. 1980 Jun 7;1(8180):1219-21. doi: 10.1016/s0140-6736(80)91679-7.
10
Familial protein intolerance. Possible nature of enzyme defect.家族性蛋白质不耐受。酶缺陷的可能性质。
N Engl J Med. 1971 May 6;284(18):997-1002. doi: 10.1056/NEJM197105062841802.
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