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