Newborn Screening for MCAD Deficiency: Experience of the First Three Years in British Columbia, Canada

BACKGROUND: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of MCA...

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Detalhes bibliográficos
Publicado no:Can J Public Health
Main Authors: Horvath, Gabriella A., Davidson, A. G. F., Stockler-Ipsiroglu, Sylvia G., Lillquist, Yolanda P., Waters, Paula J., Olpin, S., Andresen, B. S., Palaty, Jan, Nelson, Judie, Vallance, Hilary
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6975828/
https://ncbi.nlm.nih.gov/pubmed/18767270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/BF03403754
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