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Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease.

作者信息

Badv Reza Shervin, Ghahvechi Akbari Masood, Heidari Morteza, Safavi Moeinadin

机构信息

Pediatrics Neurology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Physical Medicine and Rehabilitation Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Arch Iran Med. 2022 Dec 1;25(12):847-848. doi: 10.34172/aim.2022.132.

DOI:10.34172/aim.2022.132
PMID:37543914
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10685842/
Abstract
摘要

相似文献

1
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease.线粒体神经胃肠性脑病（MNGIE）病
Arch Iran Med. 2022 Dec 1;25(12):847-848. doi: 10.34172/aim.2022.132.
2
Intensive nutrition support may benefit patients with a rare mitochondrial disorder.强化营养支持可能使患有罕见线粒体疾病的患者受益。
Nutr Clin Pract. 2022 Apr;37(2):361-365. doi: 10.1002/ncp.10726. Epub 2021 Jun 25.
3
Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes.回应：POLG1基因变异最多可导致类MNGIE表型，但不会导致典型的MNGIE表型。
Clin Neurol Neurosurg. 2024 Jan;236:107893. doi: 10.1016/j.clineuro.2023.107893. Epub 2023 Jul 13.
4
POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype.POLG1基因变异最多可导致类MNGIE（线粒体神经胃肠脑肌病）表型，但不会引发典型的MNGIE表型。
Clin Neurol Neurosurg. 2024 Jan;236:108069. doi: 10.1016/j.clineuro.2023.108069. Epub 2023 Nov 28.
5
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.同种异体造血干细胞移植作为治疗线粒体神经胃肠脑肌病（MNGIE）患者的选择：标准化方法的共识会议提案。
Bone Marrow Transplant. 2011 Mar;46(3):330-337. doi: 10.1038/bmt.2010.100. Epub 2010 May 3.
6
Polyneuropathy Reveals Origins of Decade-long Gastrointestinal Symptoms in a Patient With Undiagnosed Mitochondrial Neurogastrointestinal Encephalopathy Caused by a Novel Mutation.多发性神经病揭示了一位患有未确诊的线粒体神经胃肠病伴发的长达十年胃肠道症状的病因，该患者的线粒体神经胃肠病由一种新的突变引起。
J Clin Neuromuscul Dis. 2020 Dec;22(2):97-102. doi: 10.1097/CND.0000000000000326.
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Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis.造血干细胞移植治疗线粒体神经胃肠脑肌病：单中心经验强调预后涉及的多种因素。
Pediatr Blood Cancer. 2021 May;68(5):e28926. doi: 10.1002/pbc.28926. Epub 2021 Feb 3.
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Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.线粒体神经胃肠脑肌病患者的肠血管病和神经肌肉缺氧证据。
Am J Physiol Gastrointest Liver Physiol. 2021 May 1;320(5):G768-G779. doi: 10.1152/ajpgi.00047.2021. Epub 2021 Mar 3.
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Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.巴基斯坦女性的线粒体神经胃肠脑肌病：病例报告。
J Med Case Rep. 2022 Oct 3;16(1):363. doi: 10.1186/s13256-022-03582-6.
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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.线粒体神经胃肠脑肌病（MNGIE）：伴有新突变的病例报告。
Eur J Pediatr. 2010 Nov;169(11):1375-8. doi: 10.1007/s00431-010-1237-0. Epub 2010 Jun 29.

本文引用的文献

1
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.线粒体神经胃肠型脑肌病（MNGIE）：MNGIE 国际网络关于诊断、预后和治疗的立场文件。
J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8.
2
Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.线粒体神经胃肠性脑肌病：进入第四个十年，我们目前所了解的情况。
Front Genet. 2018 Dec 21;9:669. doi: 10.3389/fgene.2018.00669. eCollection 2018.
3
Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.
肝脏作为线粒体神经胃肠性脑肌病中胸苷磷酸化酶替代物的来源。
PLoS One. 2014 May 6;9(5):e96692. doi: 10.1371/journal.pone.0096692. eCollection 2014.
4
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.患者接受酶替代治疗后，MNGIE 的临床和生化改善。
Neurology. 2013 Oct 1;81(14):1269-71. doi: 10.1212/WNL.0b013e3182a6cb4b. Epub 2013 Aug 21.
5
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.同种异体造血干细胞移植作为治疗线粒体神经胃肠脑肌病（MNGIE）患者的选择：标准化方法的共识会议提案。
Bone Marrow Transplant. 2011 Mar;46(3):330-337. doi: 10.1038/bmt.2010.100. Epub 2010 May 3.
6
Assessment of stability, toxicity and immunogenicity of new polymeric nanoreactors for use in enzyme replacement therapy of MNGIE.用于MNGIE酶替代疗法的新型聚合物纳米反应器的稳定性、毒性和免疫原性评估。
J Control Release. 2009 Aug 4;137(3):246-54. doi: 10.1016/j.jconrel.2009.03.020. Epub 2009 Apr 14.
7
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).一种与线粒体神经胃肠性脑肌病（MNGIE）相关的新型胸苷磷酸化酶（TYMP）剪接位点突变的特征分析
Neuromuscul Disord. 2009 Feb;19(2):151-4. doi: 10.1016/j.nmd.2008.11.002. Epub 2008 Dec 3.
8
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.采用高效液相色谱-电喷雾串联质谱法（HPLC-ESI-MS/MS）对一名线粒体神经胃肠脑肌病（MNGIE）患者透析前后尿液和血浆中的胸苷进行定量测定。
J Mass Spectrom. 2006 May;41(5):586-92. doi: 10.1002/jms.1013.