Caracterização clínica, bioquímica e molecular de pacientes com Doença da Urina do Xarope de Bordo
=== Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism of branched chain amino acids: leucine, isoleucine and valine. The cause is the deficiency of the enzymatic complex branched chain keto acid dehydrogenase. The symptoms are neurological and one of the best described models to exp...
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| Format: | Others |
| Language: | Portuguese |
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Universidade Federal de Minas Gerais
2014
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| Online Access: | http://hdl.handle.net/1843/BUOS-9JEK5G |