Autor: Valeria A. Zagaynova
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Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the GLB1 gene that lead to the absence or insufficiency o…