Presentation
Scientific Publications
-
2022Journal (source)Nature CommunicationsNeonatal gene therapy achieves sustained disease rescue of maple syrup urine ...
-
2019Journal (source)J. Inherit. Metab. Dis.
Central nervous system complications in adult cystinosis patients.
-
2017Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa...