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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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GM2 Gangliosidosis AB Variant: A Hidden Truth.

Inês Noites1, Ana Sofia Coelho2,3, Catarina Magalhães4

  • 1Department of Pediatrics, Hospital do Divino Espírito Santo de Ponta Delgada, Ponta Delgada, PRT.

Cureus
|October 20, 2025
PubMed
Summary

GM2 gangliosidosis AB variant (GM2AB) is a rare neurodegenerative disorder. This case report details the first Portuguese patient diagnosed via post-mortem genetic sequencing, emphasizing diagnostic considerations for similar conditions.

Keywords:
gm2 activator protein deficiencygm2 gangliosidosis ab variantgm2a genelysosomal storage diseaseneurodegeneration

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