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pro vyhledávání: '"Gökhan Güvenkaya"'
Autor:
Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı
Publikováno v:
Balkan Medical Journal, Vol 39, Iss 5, Pp 345-350 (2022)
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic fa
Externí odkaz:
https://doaj.org/article/5e0ef359b03e483e9e005be2d4c153d5
