Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation-Reference-Cited by-同舟云学术

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Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

Published:2003-10-01 Issue:10 Volume:162 Page:714-718
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:
Short-container-title:European Journal of Pediatrics

Author:

Grafakou Olga,Oexle Konrad,van den Heuvel Lambert,Smeets Roel,Trijbels Frans,Goebel Hans H.,Bosshard Nils,Superti-Furga Andrea,Steinmann Beat,Smeitink Jan

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-003-1282-z.pdf

Cited by 59 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome;Movement Disorders;2024-04-30

2. Mitochondrial Alpha-Keto Acid Dehydrogenase Complexes: Recent Developments on Structure and Function in Health and Disease;Subcellular Biochemistry;2024

3. Pan-Cancer Analysis of the Cuproptosis-Related Gene DLD;Mediators of Inflammation;2023-11-30

4. Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase;International Journal of Molecular Sciences;2023-06-28

5. Pan-cancer analysis of the cuproptosis-related gene DLD;2023-03-17

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