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Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Klinische Padiatrie - 1 Sept 2021

Bibi Farah, Ullah Asmat, Bourinaris Thomas, Efthymiou Stephanie, Kriouile Yamna, Sultan Tipu, Haider Shahzad, Salpietro Vincenzo, Houlden Henry, Kaukab Raja Ghazala

Abstract excerpt

BACKGROUND: Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruction of nerve cells in the brain and spinal cord. It is caused by genetic variations in the HEXA gene leading to a deficiency of β hexosaminidase A (HEXA) isoenzyme activity. This study aimed to identify causative gene variants in 3 unrelated consanguineous families presented with TSD from...

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PMID: 33831955
DOI: 10.1055/a-1371-1561

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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