GM2 gangliosidosis AB variant: first case of late onset and review of the literature.

By Michael|2022-12-15T14:55:08+00:00August 4, 2022|Comments Off on GM2 gangliosidosis AB variant: first case of late onset and review of the literature.

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AAV gene therapy for Tay-Sachs disease

By Michael|2022-12-15T15:00:55+00:00February 10, 2022|Comments Off on AAV gene therapy for Tay-Sachs disease

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The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

By Michael|2022-12-15T14:51:50+00:00November 27, 2021|Comments Off on The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

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Late Onset GM2 Gangliosidosis – Patient Listening Session

By Michael|2022-12-18T15:27:39+00:00March 5, 2021|Comments Off on Late Onset GM2 Gangliosidosis – Patient Listening Session

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GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.

By Michael|2022-12-15T14:53:55+00:00August 27, 2020|Comments Off on GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.

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Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.

By Michael|2022-12-15T14:55:54+00:00April 15, 2020|Comments Off on Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.

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Natural History of Adult Patients with GM2 Gangliosidosis.

By Michael|2022-12-15T14:56:52+00:00February 7, 2020|Comments Off on Natural History of Adult Patients with GM2 Gangliosidosis.

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Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

By Michael|2022-12-15T14:57:36+00:00July 10, 2019|Comments Off on Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

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Genetics and Therapies for GM2 Gangliosidosis.

By Michael|2022-12-15T14:59:22+00:00December 15, 2018|Comments Off on Genetics and Therapies for GM2 Gangliosidosis.

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New Approaches to Tay-Sachs Disease Therapy.

By Michael|2022-12-15T14:58:13+00:00November 20, 2018|Comments Off on New Approaches to Tay-Sachs Disease Therapy.

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