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Whole-Animal Genetic Model to Mimic Aspects of the Patient Phenotype of Classic Galactosemia
Application
An animal model for studying the underlying causes of galactosemia and screening for novel drugs to treat the condition.
Key Benefits
The first animal model for elucidating the underlying causes of galactosemia in infants.
Animals with galactosemia causing genetic knockout exhibit similar disease phenotypes and complications...
Published: 7/30/2024
Contributor(s): Judith Fridovich-Keil
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Normalization Method Simplifies Inter-Individual Comparisons
Application
Normalization procedure that allows for the direct comparison of high-throughput liquid chromatography/mass spectrometry (LC/MS) metabolomic data gathered from different individuals at different times.
Key Benefits
Samples used can be collected at different times and/or analyzed by different mass spectrometers.
Cumulative datasets...
Published: 12/4/2024
Contributor(s): Dean Jones, Quinlyn Soltow, Jennifer Johnson
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Food Lists for Nutritional Management of Metabolic Disorders
Applications
Booklets which provide a reference guide for nutritional management of rare genetic diseases.
Technical Summary
A majority of inherited metabolic disorders affect children and adults worldwide. Many metabolic disorders require special dietary therapy and monitoring by a team of physicians, nurses, genetic counsellors, social workers,...
Published: 11/20/2024
Contributor(s): Rani Singh
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