小児ミトコンドリア病の診断スキームと新規遺伝子を含む最近の知見
Author:
Affiliation:
1. Department of Pediatrics and Child Health, Nihon University School of Medicine
Publisher
The Nihon University Medical Association
Subject
Applied Mathematics,General Mathematics
Link
https://www.jstage.jst.go.jp/article/numa/82/5/82_263/_pdf
Reference24 articles.
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2. 2) Calvo SE, Mootha VK. The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet. 2010; 11: 25–44.
3. 3) Baertling F, Rodenburg RJ, Schaper J, et al. A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry. 2014; 85: 257–265.
4. 4) Tiranti V, Munar M, Sandonà D, et al. Nuclear DNA origin of cytochrome c oxidase defi ciency in Leigh’s syndrome: genetic evidence based on patient’s-derived rho degrees transformants. Hum Mol Genet. 1995; 4: 2017–2023.
5. 5) Sato-Shirai I, Ogawa E, Arisaka A, et al. Valine-restricted diet for patients with ECHS1 defi ciency: Divergent clinical outcomes in two Japanese siblings. Brain Dev. 2021; 43: 308– 313.
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