Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid β-oxidation and a target disease of newborn screening in many countries. CASE PRESENTATION: We report on two siblings with mild MCAD deficiency associated with a novel splice sit...

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Gepubliceerd in:BMC Med Genet
Hoofdauteurs: Grünert, Sarah C., Wehrle, A., Villavicencio-Lorini, P., Lausch, E., Vetter, B., Schwab, K. O., Tucci, S., Spiekerkoetter, U.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2015
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Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4557819/
https://ncbi.nlm.nih.gov/pubmed/26223887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0199-5
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