Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

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 face are the major clinical features. Aims: To eval...

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Bibliographic Details
Main Authors:	Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı
Format:	Article
Language:	English
Published:	Galenos Publishing House 2022-09-01
Series:	Balkan Medical Journal
Online Access:	http://balkanmedicaljournal.org/abstract.php?lang=en&id=2422

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