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BH4 in tyrosine hydroxylase deficiency

EPISODE · Mar 15, 2024 · 16 MIN

BH4 in tyrosine hydroxylase deficiency

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

Listener feedback link: https://form.jotform.com/240459204544050 Kunwar Jung-KC and Alba Tristán-Noguero discuss tyrosine hydroxylase deficiency and explain how the tyrosine hyodroxylase cofactor, BH4, has shown early therapeutic potential in human neurons and a knock-in mouse model. Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model Kunwar Jung-KC, Alba Tristán-Noguero, et al https://doi.org/10.1002/jimd.12702

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BH4 in tyrosine hydroxylase deficiency

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