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Toplam kayıt 189729, listelenen: 189643-189643
Clinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye
(2023)
Objective: Tay-Sachs disease is a fatal inherited lysosomal storage disease that mostly has an early infantile onset. We presented a case series of Tay-Sachs disease, describe the clinical and molecular findings, and compare ...