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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » A » Acyl-CoA Dehydrogenase/chemistry/deficiency/ genetics/ metabolism

Acyl-CoA Dehydrogenase/chemistry/deficiency/ genetics/ metabolism

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  • 1.   The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive

    This study aimed to examined the temperature sensitive of Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based (mass spectometry ) newborn screening

    Eur J Biochem, Vol: 271 Page: 4053-63 October 2004
    L. O'Reilly; P. Bross; T. J. Corydon; S. E. Olpin; J. Hansen; J. M. Kenney; S. E. McCandless; D. M. Frazier; V. Winter; N. Gregersen; P. C. Engel; B. S. Andresen

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