Associated Papers
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci S et al.
Journal of Inherited Metabolic Disease, 2021
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Ruiz-Schultz N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.
Drendel HM et al.
Case Reports in Genetics, 2015
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