Triagem neonatal para deficiencia de biotinidase no estado de Minas Gerais
=== Introduction: biotinidase deficiency is an inherited metabolic disorder, autosomal, recessive, caused by gene mutations in the biotinidase (BTD), located in chromosome 3p25. Usually this disorder is manifested through neurological and cutaneous abnormalities. The diagnosis consists in detection...
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| Format: | Others |
| Language: | Portuguese |
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Universidade Federal de Minas Gerais
2010
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| Online Access: | http://hdl.handle.net/1843/ECJS-85JHYC |