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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Bibliographic Details
Main Author: Marcão, Ana (author)
Other Authors: Nogueira, Célia (author), Sousa, Carmen (author), Fonseca, Helena (author), Lopes, Maria de Lurdes (author), Rocha, Hugo (author), Vilarinho, Laura (author)
Format: conferenceObject
Language:eng
Published: 2013
Subjects:
Doenças Genéticas
Rastreio Neonatal
Online Access:http://hdl.handle.net/10400.18/1161
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/1161

Internet

http://hdl.handle.net/10400.18/1161

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