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[Expert consensus on the diagnosis and treatment of Leigh syndrome (2023)].

出版信息

Zhonghua Er Ke Za Zhi. 2023 Dec 2;61(12):1077-1085. doi: 10.3760/cma.j.cn112140-20230904-00153.

DOI:10.3760/cma.j.cn112140-20230904-00153

PMID:38018044

Abstract

摘要

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[Expert consensus on the diagnosis and treatment of Leigh syndrome (2023)].

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相似文献

[Expert consensus on the diagnosis and treatment of Leigh syndrome (2023)].

Zhonghua Er Ke Za Zhi. 2023 Dec 2;61(12):1077-1085. doi: 10.3760/cma.j.cn112140-20230904-00153.

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.

Mol Genet Metab. 2016 Mar;117(3):300-12. doi: 10.1016/j.ymgme.2015.12.004. Epub 2015 Dec 19.

A guide to diagnosis and treatment of Leigh syndrome.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14.

Leigh syndrome in an infant resulting from mitochondrial DNA depletion.

Pediatr Neurol. 2001 Jan;24(1):60-3. doi: 10.1016/s0887-8994(00)00226-5.

A rare mitochondrial disorder: Leigh syndrome--a case report.

Ital J Pediatr. 2010 Sep 15;36:62. doi: 10.1186/1824-7288-36-62.

Exclusive affection of the brain in m.4450G>A carriers rather suggests Leigh syndrome than MELAS.

Brain Dev. 2019 Sep;41(8):741. doi: 10.1016/j.braindev.2019.03.011. Epub 2019 Apr 2.

[MELAS-Leigh superposition syndrome: a case report].

Zhonghua Nei Ke Za Zhi. 2020 Feb 1;59(2):140-143. doi: 10.3760/cma.j.issn.0578-1426.2020.02.009.

A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case.

Pediatr Neonatol. 2012 Feb;53(1):60-2. doi: 10.1016/j.pedneo.2011.11.012. Epub 2012 Jan 13.

Frequent recurrence of pancreatitis in a patient with Leigh syndrome.

Pediatr Int. 2022 Jan;64(1):e15021. doi: 10.1111/ped.15021.

[Leigh syndrome due to mitochondrial respiratory chain complex II deficiency].

Zhongguo Dang Dai Er Ke Za Zhi. 2011 Jul;13(7):569-72.

引用本文的文献

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.

Neurogenetics. 2024 Nov 28;26(1):13. doi: 10.1007/s10048-024-00782-8.

[Leigh syndrome caused by the mitochondrial m.8993T>G mutation with hypocitrullinemia: a report of four cases and literature review].

Zhongguo Dang Dai Er Ke Za Zhi. 2024;26(9):940-945. doi: 10.7499/j.issn.1008-8830.2404036.

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.

Orphanet J Rare Dis. 2024 Aug 21;19(1):305. doi: 10.1186/s13023-024-03310-x.