Associated Papers
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases.
Yoldaş Çelik M et al.
Molecular Genetics and Metabolism Reports, 2025
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genomic Profiling of Patient-Derived Xenografts for Lung Cancer Identifies B2M Inactivation Impairing Immunorecognition.
Pereira C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
28302866 (PubMed )
Supplement: 10780432ccr161946t-sup-169990_2_supp_3753021_qh1cqs.pdf
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.
Martins C et al.
Molecular Genetics and Metabolism Reports, 2017
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