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Search Results - rare%2forphan+diseases
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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
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Inventor(s):
Judith Fridovich-Keil
Keywords(s):
Animal Model
,
Enzyme/Protein
,
Genetic Disorders
,
Metabolic Diseases
,
Rare/Orphan Diseases
Category(s):
TechPub Algolia > Research Tools
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
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Inventor(s):
Rani Singh
Keywords(s):
Metabolic Diseases
,
Rare/Orphan Diseases
Category(s):
TechPub Algolia > Non-Therapeutics