Secondary and Tertiary Prevention of Inborn Errors of Metabolism
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This 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.
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Kulcsszavak
Inborn Errors of Metabolism , Newborn Screening , Phenylketonuria , Maple Syrup Urine Disease , Urea Cycle Disorder , Glycogen Storage Disease , Next Generation Sequencing , In Vitro Fertilization , Expanded Carrier Screening , Non-Invasive Prenatal Diagnosis , Preimplantation Genetics , Cell-free fetal DNA