JIMD Podcasts

Tyrosine Hydroxylase Deficiency: Consensus guidelines

JIMD Podcasts

Show Notes

In this episode, Mariya Sigatullina Bondarenko, Thomas Opladen and Ivana Badnjarevic discuss the first international consensus guideline for tyrosine hydroxylase deficiency. They explore diagnosis, treatment, the move away from rigid subtype labels, and why patient experience matters in shaping better care.

PROMs link 👉 https://www.proms-ntd.org

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency Mariya Sigatullina Bondarenko, et al https://doi.org/10.1002/jimd.70106

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