PMC:1448208 / 113-519
Annnotations
craft-sa-dev
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Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency. Current treatments are not satisfactory and require new approaches to combat this disease. A major hurdle in developing new treatments has been the lack of a suitable animal model."}
craft-ca-core-ex-dev
{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T776","span":{"begin":11,"end":16},"obj":"NCBITaxon:4022"},{"id":"T777","span":{"begin":23,"end":28},"obj":"UBERON:0001088"},{"id":"T778","span":{"begin":66,"end":76},"obj":"GO:0008152"},{"id":"T779","span":{"begin":118,"end":127},"obj":"CHEBI:25754"},{"id":"T780","span":{"begin":207,"end":213},"obj":"CHEBI_GO_SO_EXT:enzyme"},{"id":"T781","span":{"begin":393,"end":399},"obj":"NCBITaxon:33208"}],"text":"Background\nMaple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency. Current treatments are not satisfactory and require new approaches to combat this disease. A major hurdle in developing new treatments has been the lack of a suitable animal model."}
craft-ca-core-dev
{"project":"craft-ca-core-dev","denotations":[{"id":"T729","span":{"begin":11,"end":16},"obj":"NCBITaxon:4022"},{"id":"T730","span":{"begin":23,"end":28},"obj":"UBERON:0001088"},{"id":"T731","span":{"begin":66,"end":76},"obj":"GO:0008152"},{"id":"T732","span":{"begin":118,"end":127},"obj":"CHEBI:25754"},{"id":"T733","span":{"begin":393,"end":399},"obj":"NCBITaxon:33208"}],"text":"Background\nMaple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency. Current treatments are not satisfactory and require new approaches to combat this disease. A major hurdle in developing new treatments has been the lack of a suitable animal model."}