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Racial diversity and the S135L variant in galactosemia
Manage episode 366866316 series 3001064
Konten disediakan oleh JIMD Podcasts and Journal of Inherited Metabolic Disease. Semua konten podcast termasuk episode, grafik, dan deskripsi podcast diunggah dan disediakan langsung oleh JIMD Podcasts and Journal of Inherited Metabolic Disease atau mitra platform podcast mereka. Jika Anda yakin seseorang menggunakan karya berhak cipta Anda tanpa izin, Anda dapat mengikuti proses yang diuraikan di sini https://id.player.fm/legal.
Professor Judy Fridovich-Keil returns to the podcast to explain gaps in research data around the S135L variant in classic galactosemia and why current data sets may not not truly reflect the international experience of galactosemia. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT Quinton S. Katler, et al https://doi.org/10.1002/jimd.12556 Racial and ethnic diversity of classic and clinical variant galactosemia in the United States Stettner et al https://doi.org/10.1016/j.ymgme.2023.107542
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