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Brigatti, Karlla W.

https://orcid.org/0000-0002-9178-815X

A5014493507 | I1305995100

Mayo Clinic

Clinic for Special Children

Citations 2

Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy

Neurology | November 12, 2025 | Volume: 105 | Issue: 11 | Pages: No page available

10.1212/wnl.0000000000214425 | PMID 41223342

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