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Long-term follow-up of 77 patients with isolated methylmalonic acidaemia.

作者信息

Baumgarter E R, Viardot C

机构信息

University Children's Hospital, Basel, Switzerland.

出版信息

J Inherit Metab Dis. 1995;18(2):138-42. doi: 10.1007/BF00711749.

DOI:10.1007/BF00711749
PMID:7564229
Abstract
摘要

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Long-term follow-up of 77 patients with isolated methylmalonic acidaemia.
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Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.甲基丙二酸单酰辅酶A变位酶基因的新型突变导致一名日本女孩患mut0型甲基丙二酸血症。
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Novel mutations in a Thai patient with methylmalonic acidemia.一名患有甲基丙二酸血症的泰国患者中的新突变。
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Methylmalonic acidemia.甲基丙二酸血症
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[Methylmalonic acidemia].[甲基丙二酸血症]
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Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.人甲基丙二酰辅酶A变位酶的同源建模：导致甲基丙二酸尿症的点突变的结构基础。
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Follow-up study of neuropsychological scores of infant patients with cobalamin C defects and influencing factors of cerebral magnetic resonance imaging characteristics.钴胺素C缺陷婴儿患者神经心理评分的随访研究及脑磁共振成像特征的影响因素
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The Regulation and Characterization of Mitochondrial-Derived Methylmalonic Acid in Mitochondrial Dysfunction and Oxidative Stress: From Basic Research to Clinical Practice.

本文引用的文献

1
Tubulointerstitial nephritis in methylmalonic acidemia.甲基丙二酸血症中的肾小管间质性肾炎
Pediatr Nephrol. 1993 Feb;7(1):81-2. doi: 10.1007/BF00861581.
2
The natural history of the inherited methylmalonic acidemias.遗传性甲基丙二酸血症的自然病史。
N Engl J Med. 1983 Apr 14;308(15):857-61. doi: 10.1056/NEJM198304143081501.
3
Chronic renal failure in methylmalonic acidaemia.
Eur J Pediatr. 1989 Jan;148(4):344-8. doi: 10.1007/BF00444131.
线粒体功能障碍和氧化应激中甲基丙二酸的调节和特征：从基础研究到临床实践。
Oxid Med Cell Longev. 2022 May 24;2022:7043883. doi: 10.1155/2022/7043883. eCollection 2022.
4
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.
5
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.甲基丙二酸血症和丙酸血症的诊断和管理指南：第一版修订。
J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9.
6
Factors influencing in-hospital death for pediatric patients with isolated methylmalonic acidemia: a nationwide inpatient database analysis.影响孤立性甲基丙二酸血症儿科患者院内死亡的因素：全国住院患者数据库分析。
Orphanet J Rare Dis. 2020 Jun 19;15(1):154. doi: 10.1186/s13023-020-01446-0.
7
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
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.系统文献回顾和荟萃分析甲基丙二酸血症（MMA）的流行病学，重点关注由甲基丙二酰辅酶 A 变位酶（mut）缺陷引起的 MMA。
Orphanet J Rare Dis. 2019 Apr 25;14(1):84. doi: 10.1186/s13023-019-1063-z.
9
Methylmalonic and propionic acidemias: clinical management update.甲基丙二酸血症和丙酸血症：临床管理更新
Curr Opin Pediatr. 2016 Dec;28(6):682-693. doi: 10.1097/MOP.0000000000000422.
10
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.基于质谱的有机酸血症代谢组学和蛋白质组学策略
Biomed Res Int. 2016;2016:9210408. doi: 10.1155/2016/9210408. Epub 2016 Jun 14.
4
Renal tubular dysfunction in methylmalonic acidaemia.甲基丙二酸血症中的肾小管功能障碍。
Eur J Pediatr. 1991 Feb;150(4):259-63. doi: 10.1007/BF01955526.
5
Progressive renal insufficiency in methylmalonic acidemia.甲基丙二酸血症中的进行性肾功能不全。
Pediatr Nephrol. 1991 May;5(3):323-6. doi: 10.1007/BF00867492.