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Showing 4 matches for the following: Inventor: "Kishnani, Priya" ×

Splice switching oligonucleotides to restore PHKG2 expression in glycogen storage disease IX

Splice switching oligonucleotides to restore PHKG2 expression in glycogen storage disease IX

Unmet Need Glycogen Storage Disease IX (GSD IX) is a rare inherited disorder primarily caused by mutations in the PHKG2 gene, leading to significant deficiencies in glycogen metabolism. Patients typically present with a variety of…

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A method of screening and monitoring glycogen storage diseases with a single biomarker

A method of screening and monitoring glycogen storage diseases with a single biomarker

Unmet Need Glycogen storage disease type I (GSD I) is an autosomal recessive inherited disorder of carbohydrate metabolism associated with life threatening fasting hypoglycemia, and significant morbidity and mortality. Currently, the standard of care therapy…

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Method for treatment of glycogen storage disease type III by AAV vector containing a bacterial glycogen debranching enzyme

Method for treatment of glycogen storage disease type III by AAV vector containing a bacterial glycogen debranching enzyme

Value Proposition Glycogen storage disease (GSDIII, Cori Disease) is due to a genetic mutation in the glycogen debranching enzyme (GDE), and can cause uncontrolled glycogen buildup in liver, muscles, and other body compartments. There is…

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Test of Verbal Expression and Reasoning (TOVER)

Test of Verbal Expression and Reasoning (TOVER)

The TOVER is non-standardized assessment of expressive language in context and verbal reasoning. The 64 item test was specifically designed to assess language function in children and adults with Down syndrome across a broad range…

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