Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is included in many newborn screening programmes worldwide. In addition to the prevalent mutation c.985A>G in the ACADM gene, potentially mild mutations like c.199T>C are frequently found in screening cohorts. There is ongoing...

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Publicado no:JIMD Rep
Main Authors: Gramer, Gwendolyn, Haege, Gisela, Fang-Hoffmann, Junmin, Hoffmann, Georg F., Bartram, Claus R., Hinderhofer, Katrin, Burgard, Peter, Lindner, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4484909/
https://ncbi.nlm.nih.gov/pubmed/25940036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_439
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