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Chorioretinopathy In LCHADD
Manage episode 439710769 series 3001064
Kandungan disediakan oleh JIMD Podcasts and Journal of Inherited Metabolic Disease. Semua kandungan podcast termasuk episod, grafik dan perihalan podcast dimuat naik dan disediakan terus oleh JIMD Podcasts and Journal of Inherited Metabolic Disease atau rakan kongsi platform podcast mereka. Jika anda percaya seseorang menggunakan karya berhak cipta anda tanpa kebenaran anda, anda boleh mengikuti proses yang digariskan di sini https://ms.player.fm/legal.
Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis. Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy Melanie B. Gillingham, et al https://doi.org/10.1002/jimd.12738
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