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Demczko, Matthew M.

https://orcid.org/0000-0003-0232-9611

A5029116775 | I1335321130

Children's Hospital of Philadelphia

Citations 2

Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017)

Neurology | April 9, 2024 | Volume: 102 | Issue: 7_supplement_1 | Pages: No page available

10.1212/wnl.0000000000206383

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Human Molecular Genetics | October 2, 2018 | Volume: 28 | Issue: 4 | Pages: 525-538

10.1093/hmg/ddy344 | PMID 30304524