Molecular characterization of Methylmalonyl CoA mutase deficiency in patients identified through newborn screening
Methylmalonyl CoA mutase (MCM) deficiency due to mutations in MUT gene is a rare metabolic disorder with autosomal recessive inheritance. Based on the complete or partial absence of functional apoenzyme, two distinct biochemical phenotypes can be associated with MCM deficiency: mut0 and mut- forms,...
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| Outros Autores: | , , , , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2013
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/1161 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/1161 |