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In hemizygous males the phenotype depends on the type of mutation - 50% have no residual enzyme activity at all and develop hyperammonaemic coma and death in the neonatal period

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A administracin dunha mestura de carnitina ou propionil-L-carnitina pode incrementar as concentracins sricas de osteocalcina dos animais as tratados, mentres que os niveis de osteocalcina srica tenden a decrecer coa idade nos animais control

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