Secondary and Tertiary Prevention of Inborn Errors of Metabolism

Török, OlgaOlaosebikan, Kikelomo Olamide2021-06-172021-06-172020-08-11http://hdl.handle.net/2437/311248This thesis is focused on understanding inborn errors of metabolism, secondary and tertiary prevention of them, and also a feature addressing the limitations to effective management in developing world countries. Providing early recognition and intervention is essential to avoid devastating consequences associated with outcomes of the diseases.55enInborn Errors of MetabolismNewborn ScreeningPhenylketonuriaMaple Syrup Urine DiseaseUrea Cycle DisorderGlycogen Storage DiseaseNext Generation SequencingIn Vitro FertilizationExpanded Carrier ScreeningNon-Invasive Prenatal DiagnosisPreimplantation GeneticsCell-free fetal DNASecondary and Tertiary Prevention of Inborn Errors of MetabolismDEENK Témalista::Orvostudomány::Szülészet, nőgyógyászat