Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

OBJECTIVE: The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected the first two patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the country. Two novel ACADM mutations are also describe...

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Detalles Bibliográficos
Autores principales: Smon, Andraz, Groselj, Urh, Debeljak, Marusa, Zerjav Tansek, Mojca, Bertok, Sara, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Battelino, Tadej, Repic Lampret, Barbka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6091831/
https://www.ncbi.nlm.nih.gov/pubmed/29350094
http://dx.doi.org/10.1177/0300060517734123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6091831/
https://www.ncbi.nlm.nih.gov/pubmed/29350094
http://dx.doi.org/10.1177/0300060517734123

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