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summary, these surviving mice had BCAA/alanine ratios that were intermediate between controls and knockouts and they expressed ~5–6% of normal BCKDH enzyme activity in the liver. These phenotypic observations are remarkably similar to the clinical phenotype observed in MSUD patients with the intermediate form of the disease [1]. Thus, these rescue mice represent a very useful model of the intermediate MSUD phenotype."}

{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T15725","span":{"begin":353,"end":357},"obj":"NCBITaxon:10088"},{"id":"T15724","span":{"begin":346,"end":352},"obj":"SO_EXT:sequence_rescue_process"},{"id":"T15723","span":{"begin":175,"end":180},"obj":"UBERON:0002107"},{"id":"T15722","span":{"begin":152,"end":158},"obj":"CHEBI_GO_SO_EXT:enzyme"},{"id":"T15721","span":{"begin":120,"end":129},"obj":"GO:0010467"},{"id":"T15720","span":{"begin":42,"end":49},"obj":"CHEBI_SO_EXT:alanine"},{"id":"T15718","span":{"begin":28,"end":32},"obj":"NCBITaxon:10088"},{"id":"T15719","span":{"begin":37,"end":41},"obj":"CHEBI:22918"}],"text":"In summary, these surviving mice had BCAA/alanine ratios that were intermediate between controls and knockouts and they expressed ~5–6% of normal BCKDH enzyme activity in the liver. These phenotypic observations are remarkably similar to the clinical phenotype observed in MSUD patients with the intermediate form of the disease [1]. Thus, these rescue mice represent a very useful model of the intermediate MSUD phenotype."}

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