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 evalu...

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Detalles Bibliográficos
Autores principales: Akar, Halil Tuna, Yıldız, Yılmaz, Güvenkaya, Gökhan, Çıkı, Kısmet, Kahraman, Ayşe Burcu, Erdal, İzzet, Coşkun, Turgay, Dursun, Ali, Sivri, Hatice Serap, Tokatlı, Ayşegül
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9469672/
https://www.ncbi.nlm.nih.gov/pubmed/35965426
http://dx.doi.org/10.4274/balkanmedj.galenos.2022.2022-3-75

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