PMC:1448208 / 2115-2457
Annnotations
craft-sa-dev
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Syrup Urine Disease (MSUD) is a genetic disorder caused by a deficiency of branched-chain keto acid dehydrogenase (BCKDH), a mitochondrial multienzyme complex responsible for the oxidative decarboxylation of branched-chain keto acids derived from branched-chain amino acids (BCAA), leucine, isoleucine and valine (for review, see: [1])."}
craft-ca-core-ex-dev
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craft-ca-core-dev
{"project":"craft-ca-core-dev","denotations":[{"id":"T3109","span":{"begin":281,"end":285},"obj":"CHEBI:22918"},{"id":"T3100","span":{"begin":0,"end":5},"obj":"NCBITaxon:4022"},{"id":"T3101","span":{"begin":12,"end":17},"obj":"UBERON:0001088"},{"id":"T3102","span":{"begin":38,"end":45},"obj":"SO:0000704"},{"id":"T3103","span":{"begin":96,"end":105},"obj":"CHEBI:25754"},{"id":"T3104","span":{"begin":131,"end":144},"obj":"GO:0005739"},{"id":"T3105","span":{"begin":157,"end":164},"obj":"GO:0032991"},{"id":"T3106","span":{"begin":185,"end":194},"obj":"MOP:0000568"},{"id":"T3107","span":{"begin":229,"end":239},"obj":"CHEBI:25754"},{"id":"T3108","span":{"begin":253,"end":279},"obj":"CHEBI:22918"}],"text":"Maple Syrup Urine Disease (MSUD) is a genetic disorder caused by a deficiency of branched-chain keto acid dehydrogenase (BCKDH), a mitochondrial multienzyme complex responsible for the oxidative decarboxylation of branched-chain keto acids derived from branched-chain amino acids (BCAA), leucine, isoleucine and valine (for review, see: [1])."}