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Irish Child Health Database - Peer Reviewed Papers

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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

  

  Abstract:

  Medium-chain acyl-CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of the beta-oxidation of medium-chain fatty acids. Mutations in MCAD may cause disease in humans. A Y42H mutation is frequently found in babies identified by newborn screening with MS/MS, yet there are no reports of patients presenting clinically with this mutation. As a basis more...

  International Classification:

  Effectiveness of measurement tool - temperature sensitive of Y42H mutation in medium-chain acyl-CoA dehydrogenase

  Geography:

  Republic of Ireland

  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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