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Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism.

作者信息

Rutledge S L, Havens P L, Haymond M W, McLean R H, Kan J S, Brusilow S W

机构信息

Department of Pediatrics, Johns Hopkins Medical School, Baltimore, Maryland 21205.

出版信息

J Pediatr. 1990 Jan;116(1):125-8. doi: 10.1016/s0022-3476(05)81661-0.

DOI:10.1016/s0022-3476(05)81661-0
PMID:2295952
Abstract
摘要

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1
Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism.新生儿血液透析:治疗先天性代谢缺陷脑病的有效疗法。
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Citrullinaemia as a cause of neurological disease in neonatal Friesian calves.
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[Progressive encephalopathy after a symptom-free period in the newborn infant, due to disorders of amino acid metabolism. Illustrated with case histories of patients with hyperglycinemia and maple syrup urine disease].[新生儿在无症状期后因氨基酸代谢紊乱导致的进行性脑病。以高甘氨酸血症和枫糖尿症患者的病例史为例]
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Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044.瓜氨酸血症,精氨琥珀酸合成酶缺乏症。储存库识别号:GM-1044。
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Qualitative abnormality of liver argininosuccinate synthetase in a patient with citrullinemia.一名瓜氨酸血症患者肝脏中精氨琥珀酸合成酶的定性异常。
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Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism.腹膜透析在治疗由遗传性有机和氨基酸代谢紊乱引起的代谢危机中的应用。
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Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease.
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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。
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Enzymatic analysis of citrullinemia (12 cases) in Japan.日本瓜氨酸血症的酶学分析(12例)
Adv Exp Med Biol. 1982;153:63-76. doi: 10.1007/978-1-4757-6903-6_9.

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Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience.连续静脉-静脉血液透析滤过治疗新生儿先天性代谢病:单中心经验。
Turk J Med Sci. 2020 Feb 13;50(1):12-17. doi: 10.3906/sag-1811-8.
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Treatment strategies for acute metabolic disorders in neonates.新生儿急性代谢紊乱的治疗策略。
Sudan J Paediatr. 2011;11(2):6-13.
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Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting.尿素循环障碍导致的高血氨症:重症监护环境中一种潜在致命的病症。
J Intensive Care. 2014 Mar 13;2(1):22. doi: 10.1186/2052-0492-2-22. eCollection 2014.
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Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.支链氨基酸代谢:从罕见的孟德尔疾病到更常见的病症
Hum Mol Genet. 2014 Sep 15;23(R1):R1-8. doi: 10.1093/hmg/ddu123. Epub 2014 Mar 20.
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Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism.间歇性血液透析在患有先天性代谢缺陷的婴幼儿中的疗效与安全性。
Pediatr Nephrol. 2014 Jan;29(1):111-6. doi: 10.1007/s00467-013-2609-2. Epub 2013 Sep 8.
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Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?患有先天性代谢缺陷的新生儿的腹膜透析:它真的过时了吗?
Pediatr Nephrol. 2008 Jan;23(1):163-8. doi: 10.1007/s00467-007-0607-y. Epub 2007 Sep 26.
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Acute hemodialysis for hyperammonemia in small neonates.小新生儿高氨血症的急性血液透析
Pediatr Nephrol. 2004 Apr;19(4):390-5. doi: 10.1007/s00467-003-1389-5. Epub 2004 Mar 2.
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Emergency management of inherited metabolic diseases.遗传性代谢疾病的应急管理
J Inherit Metab Dis. 2002 Nov;25(7):531-46. doi: 10.1023/a:1022040422590.
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Hemodialysis in infants and small children.
Pediatr Nephrol. 1994 Feb;8(1):103-6. doi: 10.1007/BF00868283.
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Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism.持续静脉-静脉血液滤过在先天性代谢缺陷急性治疗中的应用
Pediatr Nephrol. 1994 Jun;8(3):330-3. doi: 10.1007/BF00866350.