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丙酸血症和甲基丙二酸血症的管理与转归

The management and outcome of propionic and methylmalonic acidaemia.

作者信息

Leonard J V

机构信息

Metabolic Unit, London Centre for Endocrinology and Metabolism, Institute of Child Health, UK.

出版信息

J Inherit Metab Dis. 1995;18(4):430-4. doi: 10.1007/BF00710054.

DOI:10.1007/BF00710054
PMID:7494401
Abstract

The management of the severe variants of methylmalonic and propionic acidaemia remains difficult. With conventional therapy of diet, carnitine and antibiotics, mortality is high and long-term complications are common. Liver transplantation appears to be an important alternative.

摘要

甲基丙二酸血症和丙酸血症严重变体的管理仍然困难。采用饮食、肉碱和抗生素的传统疗法，死亡率很高，长期并发症很常见。肝移植似乎是一种重要的替代方法。

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The management and outcome of propionic and methylmalonic acidaemia.丙酸血症和甲基丙二酸血症的管理与转归
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本文引用的文献

1
Cardiomyopathy in propionic acidaemia.丙酸血症中的心肌病
Eur J Pediatr. 1993 May;152(5):441-5. doi: 10.1007/BF01955907.
2
Cardiomyopathy in propionic acidaemia.
Eur J Pediatr. 1994 Jan;153(1):53. doi: 10.1007/BF02000791.
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Pancreatitis in patients with organic acidemias.有机酸血症患者的胰腺炎
J Pediatr. 1994 Feb;124(2):239-43. doi: 10.1016/s0022-3476(94)70311-6.
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
孤立性甲基丙二酸血症神经认知结局的研究：治疗效果评估建议
Metab Brain Dis. 2022 Jun;37(5):1317-1335. doi: 10.1007/s11011-022-00954-1. Epub 2022 Mar 29.
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Anesthetic Management of a Child With Propionic Acidemia Complicated by Bacteremia and Severe Acute Respiratory Syndrome Coronavirus 2.一名患有丙酸血症并合并菌血症和严重急性呼吸综合征冠状病毒2的儿童的麻醉管理
J Med Cases. 2021 Apr;12(4):152-156. doi: 10.14740/jmc3628. Epub 2021 Feb 8.
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Cardiac Complications of Propionic and Other Inherited Organic Acidemias.丙酸血症及其他遗传性有机酸血症的心脏并发症
Front Cardiovasc Med. 2020 Dec 22;7:617451. doi: 10.3389/fcvm.2020.617451. eCollection 2020.
6
Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report.在院儿科患者中甲基丙二酸血症和丙酸血症：一项全国性报告。
Orphanet J Rare Dis. 2019 Dec 16;14(1):292. doi: 10.1186/s13023-019-1268-1.
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Perioperative characteristics and management of liver transplantation for isolated methylmalonic acidemia-the largest experience in China.孤立性甲基丙二酸血症肝移植的围手术期特征与管理——中国最大规模经验
Hepatobiliary Surg Nutr. 2019 Oct;8(5):470-479. doi: 10.21037/hbsn.2019.03.04.
8
The Value of Liver Transplantation for Methylmalonic Acidemia.肝移植治疗甲基丙二酸血症的价值
Front Pediatr. 2019 Mar 21;7:87. doi: 10.3389/fped.2019.00087. eCollection 2019.
9
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.受甲基丙二酸血症影响的儿童及其家庭中与健康相关的生活质量受损。
J Genet Couns. 2016 Oct;25(5):936-44. doi: 10.1007/s10897-015-9921-x. Epub 2015 Dec 14.
10
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).描绘甲基丙二酸血症（MMA）的损伤、残疾及康复需求范围。
Am J Med Genet A. 2015 Sep;167A(9):2075-84. doi: 10.1002/ajmg.a.37127. Epub 2015 May 10.
4
Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism.奇数链脂肪酸氧化在丙酸代谢紊乱中对丙酸生成的作用。
Am J Clin Nutr. 1994 Jun;59(6):1332-7. doi: 10.1093/ajcn/59.6.1332.
5
A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia.
Scand J Infect Dis. 1994;26(1):107-8. doi: 10.3109/00365549409008599.
6
Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.通过显微注射编码丙酰辅酶A羧化酶β亚基的全长cDNA或RNA转录本纠正丙酸血症成纤维细胞中的代谢缺陷。
Genomics. 1994 Feb;19(3):500-5. doi: 10.1006/geno.1994.1099.
7
Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria.有机酸尿症中的肠病性肢端皮炎样皮肤损害
J Pediatr. 1994 Mar;124(3):416-20. doi: 10.1016/s0022-3476(94)70364-7.
8
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.维生素B₁₂无反应性甲基丙二酸血症患者长期管理的临床结局
J Pediatr. 1994 Dec;125(6 Pt 1):903-8. doi: 10.1016/s0022-3476(05)82005-0.
9
The investigation of inborn errors in vivo using stable isotopes.
Eur J Pediatr. 1994;153(7 Suppl 1):S81-3. doi: 10.1007/BF02138782.
10
L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia.左旋肉碱可促进丙酸血症患者体内丙酰辅酶A以丙酰肉碱形式排出。
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