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UnknownNatural history of infantile G(M2) gangliosidosis.
Not available
S-EPMC3208966 | biostudies-literature
UnknownIdentification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Not available
S-EPMC3377590 | biostudies-literature
UnknownPrimary antiphospholipid syndrome associated Liebman-Sachs endocarditis leading to diffuse alveolar hemorrhage: A case report.
Not available
S-EPMC6125762 | biostudies-literature
TranscriptomicsCNS-Targeted Base Editing of the Major Late-Onset Tay-Sachs Mutation Alleviates Disease in Mice
Late-onset Tay-Sachs (LOTS) disease is a lysosomal storage disorder most commonly caused by a point mutation (c.805G>A) in the HEXA gene encoding the α-subunit of the lysosomal enzyme β-hexosaminidase A. LOTS manifests as a range of gradually worsening neurological symptoms beginning in young adulth...
ORGANISM(S): Mus musculus 
2025-06-02 | GSE268712 | GEO
UnknownFive-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep.
Not available
S-EPMC12646665 | biostudies-literature
GenomicsCNS-Targeted Base Editing of the Major Late-Onset Tay-Sachs Mutation Alleviates Disease in Mice
CNS-Targeted Base Editing of the Major Late-Onset Tay-Sachs Mutation Alleviates Disease in Mice
PRJNA1118306 | ENA
UnknownThree novel mutations in Iranian patients with Tay-Sachs disease.
Not available
S-EPMC3933921 | biostudies-literature
UnknownAnatomic Humeral Head Reconstruction With Fresh Osteochondral Talus Allograft for Recurrent Glenohumeral Instability With Reverse Hill-Sachs Lesion.
Not available
S-EPMC5382574 | biostudies-literature
UnknownWhole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family.
Not available
S-EPMC7501024 | biostudies-literature
UnknownPosterior shoulder dislocation with reverse Hill-Sachs lesion. A technical note and report of two cases.
Not available
S-EPMC8019564 | biostudies-literature
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