Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

Publication | Open Access

DOI Full Paper Access

232

Citations

References

2001

Year

Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly, Joseph Muenzer, Shawn E. McCandless, Dianne M. Frazier, Szabolcs Udvari, Peter Bross, Inga Knudsen, Rick Banas,

The American Journal of Human Genetics

Clinical SymptomsMendelian DisorderPrevalent MutationMedicineGenetic DisorderNeonatal Multi-omicsPathogenesisDiagnosisPathologyPediatricsMedium-chain Acyl-coa DehydrogenaseMedical GeneticsDisease Gene IdentificationMolecular DiagnosticsGenetic MedicineVariant InterpretationClinical Genetics