Presentation
Scientific Publications
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2023
Successful treatment of severe MSUD in Bckdhb mice with neonatal AAV gene the..., J Inherit Metab Dis
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2018
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati..., Am J Hum Genet
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2017
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa..., Am J Hum Genet