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Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C.

作者信息

Dvorakova Veronika, Magner Martin, Honzik Tomas

机构信息

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague.

出版信息

Mol Genet Metab Rep. 2014 Dec 18;2:46. doi: 10.1016/j.ymgmr.2014.12.002. eCollection 2015 Mar.

DOI:10.1016/j.ymgmr.2014.12.002
PMID:28649526
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5471158/
Abstract
摘要

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Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C.一名因线粒体DNA突变m.8851T>C导致ATP合酶缺乏的儿童发生高氨血症危机。
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TMEM70 deficiency: long-term outcome of 48 patients.跨膜蛋白70缺陷:48例患者的长期预后
J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18.
2
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.由 UQCRC2 基因突变引起的线粒体复合物 III 缺陷导致新生儿期反复发作的代谢性失代偿。
Hum Mutat. 2013 Mar;34(3):446-52. doi: 10.1002/humu.22257. Epub 2013 Jan 29.
3
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.一个携带线粒体 MTATP6 基因 m.8851T>C 突变的家族中不同的实验室和肌肉活检结果。
Mol Genet Metab. 2013 Jan;108(1):102-5. doi: 10.1016/j.ymgme.2012.11.002. Epub 2012 Nov 13.
4
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.129 例新生儿线粒体疾病的发病情况:临床和实验室特征及一种新的诊断方法。
J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10.
5
Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.
Eur J Pediatr. 2008 Aug;167(8):941-4. doi: 10.1007/s00431-007-0592-y. Epub 2007 Sep 11.
6
Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency.新生儿肝功能衰竭和 Leigh 综合征可能归因于辅酶 Q 反应性氧化磷酸化缺陷。
Mol Genet Metab. 2003 Aug;79(4):288-93. doi: 10.1016/s1096-7192(03)00097-0.
7
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.一名丙酮酸脱氢酶缺乏症患者出现高氨血症和乳酸性酸中毒。
J Inherit Metab Dis. 1987;10(4):359-66. doi: 10.1007/BF01799978.
8
Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.两名兄弟姐妹患丙酮酸羧化酶缺乏症的新生儿先天性乳酸酸中毒
Acta Paediatr Scand. 1976 Nov;65(6):717-24. doi: 10.1111/j.1651-2227.1976.tb18009.x.