A biallelic pathogenic variant in the OGDH...

Journal of Inherited Metabolic Disease 2020 / 05

A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease

Yap, Zheng Yie, Strucinska, Klaudia, Matsuzaki, Satoshi, Lee, Sukyeong, Si, Yue, Humphries, Kenneth, Tarnopolsky, Mark A., Yoon, Wan Hee
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Journal:
Journal of Inherited Metabolic Disease
DOI:
10.1002/jimd.12248
Date:
May, 2020
File:
PDF, 18.14 MB
2020
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