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Molecular Genetics and Metabolism|May 21, 2024
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individualsTanyel Zubarioglu, Ertuğrul Kıykım, Engin Köse, et al.
Life (Basel, Switzerland)|November 11, 2022
Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyBerna Seker Yilmaz, Julien Baruteau, Nur Arslan, et al.
Turkish Journal of Medical Sciences|July 21, 2025
Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in TürkiyeEkin Özsaydi Aktaşoğlu, Aslı Inci, Rıdvan Murat Öktem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
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