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Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK

BACKGROUND—Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed to be considerably underdiagnosed.
OBJECTIVE—To investigate the diagnosis and outcome of MCAD deficienc...

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Hlavní autoři: Pollitt, R, Leonard, J
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 1998
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1717653/
https://ncbi.nlm.nih.gov/pubmed/9797590
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