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Yapay Zeka Hızlı Bakış & Çıkarımlar
AI Insight⚡ TL;DR(1 Cümlede Hızlı Çıkarım)
Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene, which encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene, which encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.
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Temel Bulgular & Veri:Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene, which encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.
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Sonuç & Katkı:Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene, which encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene, which encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.
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Bu Makaleye Atıf Yap
MILITARU, S., ADAM, R., DOROBANTU, L., FERRAZZI, P., LASCONE, M., RADOİ, V., GENER, İ., POPESCU, B. A., JURCUT, R. (2019). Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature. The Anatolian Journal of Cardiology, Cilt: 22 - Sayı: 3, 154–158. https://ajindex.com/articles/366800